p.123
Genetic Variation and Mutation
What is allelic balance?
A condition where both alleles of a gene are expressed equally.
p.43
Inborn Errors of Metabolism
What are Glycogen Storage Diseases (GSDs)?
Disorders that affect the metabolism of glycogen.
p.10
Genetic Variation and Mutation
What role do new mutations play in genetic variation?
They increase the frequency of mutant alleles in a population.
p.103
Coronary Artery Disease and Genetic Factors
What is typically inserted during balloon angioplasty?
A stent, to help keep the lumen open after the procedure.
p.88
Diabetes Mellitus Types and Management
What are the main factors contributing to the causes of Type 2 diabetes?
A combination of genetic and lifestyle factors.
p.118
Types of Genetic Inheritance
Is genetic inheritance always straightforward?
No, it is not always black or white.
p.86
Diabetes Mellitus Types and Management
What is gestational diabetes?
Diabetes that occurs during pregnancy.
p.75
Common Genetic Disorders
What happens when three alpha-globin genes are deleted?
It leads to Hemoglobin H disease.
p.136
Multifactorial Inheritance and Complex Diseases
Why is multifactorial inheritance important?
It helps understand complex traits and diseases influenced by both genetics and environment.
p.115
Common Genetic Disorders
What factors contribute to the higher prevalence of hemochromatosis in men?
Alcohol consumption, higher iron intake, and less blood loss of iron.
p.12
Detection of Genetic Variations
What do antibodies and antigens form in blood tests?
An antibody-antigen complex.
p.108
Pharmacogenetics and Drug Response
What is a common concern regarding statins?
Potential side effects and their impact on muscle health.
p.124
Types of Genetic Inheritance
Is the inactivation of the X-chromosome random or fixed?
It is random, fixed, and incomplete.
p.102
Coronary Artery Disease and Genetic Factors
What is angina?
Squeezing pain or pressure in your chest.
p.121
Types of Genetic Inheritance
What is penetrance in genetics?
Penetrance is all or nothing; individuals may have a disease-causing genotype but not develop the disease phenotype.
p.10
Genetic Variation and Mutation
How does non-random mating affect genetic variation?
It involves the selection of a partner toward a particular genotype or phenotype.
p.115
Types of Genetic Inheritance
What is the recurrence risk for autosomal recessive diseases?
Usually 25%, can be 50% if a homozygote mates with a heterozygote.
p.138
Types of Genetic Inheritance
What are qualitative traits?
Qualitative traits are characteristics that are typically influenced by a single gene and can be categorized into distinct classes.
p.88
Types of Genetic Inheritance
What is a common familial link in Type 2 diabetes?
Many affected individuals have at least one close family member with the disease.
p.107
Pharmacogenetics and Drug Response
What is the result of statins inhibiting HMG CoA reductase?
Less cholesterol is released into the bloodstream.
p.78
Genetic Variation and Mutation
What is the mutational basis of beta-thalassemia?
More than 100 mutations have been identified as causes of beta-thalassemia.
p.122
Types of Genetic Inheritance
What factors can modify the severity of a disease phenotype?
Modifier genes, environmental factors, and allelic heterogeneity.
p.100
Coronary Artery Disease and Genetic Factors
What causes the narrowing of coronary arteries in CAD?
Plaque buildup, which consists of fat, cholesterol, and other substances.
p.75
Common Genetic Disorders
What are the clinical features of Hemoglobin H disease?
Hemolytic anemia, microcytic anemia, and splenomegaly.
p.100
Coronary Artery Disease and Genetic Factors
What are common risk factors for developing CAD?
High blood pressure, high cholesterol, smoking, diabetes, and a sedentary lifestyle.
p.109
Pharmacogenetics and Drug Response
What is the role of PCSK9 inhibitors?
They block a protein called PCSK9, helping the liver remove and clear LDL cholesterol from the blood.
p.122
Types of Genetic Inheritance
How can different mutations in the same gene locus affect disease phenotype?
They can lead to different expressions of the disease phenotype.
p.124
Types of Genetic Inheritance
Why are females considered mosaic organisms?
Because of the random inactivation of one X-chromosome.
p.134
Genetic Variation and Mutation
What are polyglutamine disorders?
A group of disorders caused by dynamic mutations involving repeat expansions.
p.133
Common Genetic Disorders
What are the clinical features of Prader-Willi Syndrome?
Short stature, obesity, hypogonadism.
p.127
Types of Genetic Inheritance
What type of inheritance is characterized by both heterozygous and homozygous females being affected?
X-linked dominant inheritance.
p.115
Types of Genetic Inheritance
Is there a gender bias in autosomal recessive diseases?
No, there is an equal number of affected males and females.
p.86
Diabetes Mellitus Types and Management
What is Type 2 Diabetes Mellitus (DM) also known as?
Non-insulin-dependent DM (NIDDM).
p.86
Diabetes Mellitus Types and Management
What is a common characteristic of Type 2 DM?
Usually older onset and associated with obesity.
p.128
Types of Genetic Inheritance
What type of inheritance is Rett syndrome associated with?
X-linked dominant inheritance.
p.121
Types of Genetic Inheritance
What does reduced and age-dependent penetrance mean?
It means that the expression of a genetic disease may be delayed and varies with age.
p.108
Pharmacogenetics and Drug Response
Are statins considered effective?
Yes, they are generally effective in reducing cholesterol and preventing cardiovascular diseases.
p.128
Common Genetic Disorders
What are the developmental issues associated with Rett syndrome?
Severe brain development issues.
p.111
Types of Genetic Inheritance
What characterizes multifactorial inheritance?
It involves multiple genes and a complex interplay with the environment.
p.136
Multifactorial Inheritance and Complex Diseases
What are modifier genes?
Genes that can influence the expression of other genes in multifactorial traits.
p.136
Multifactorial Inheritance and Complex Diseases
What do gene regulatory networks do?
They regulate the expression of genes and their interactions in multifactorial inheritance.
p.122
Types of Genetic Inheritance
What does locus heterogeneity refer to?
Single disease phenotype caused by mutations in different loci.
p.75
Common Genetic Disorders
What is the treatment dependency for patients with Hemoglobin H disease?
Blood transfusion dependent.
p.109
Pharmacogenetics and Drug Response
What do fibrates do?
They lower triglycerides and may also raise HDL (good) cholesterol.
p.17
Detection of Genetic Variations
What does PCR stand for?
Polymerase Chain Reaction.
p.65
Genetic Variation and Mutation
What is the role of transcription factors in the expression of beta-globin genes?
They interact with the LCR to regulate sequential expression.
p.115
Types of Genetic Inheritance
What is a common feature of autosomal recessive inheritance regarding affected individuals in earlier generations?
No disease in earlier generations (skipped generations).
p.118
Types of Genetic Inheritance
How do autosomal dominant diseases typically present in homozygotes?
They are usually more severe.
p.86
Diabetes Mellitus Types and Management
What is Type 1 Diabetes Mellitus (DM) also known as?
Insulin-dependent DM (IDDM).
p.110
Genetic Variation and Mutation
What are common genetic alterations?
Inherited from parents, new mutations in germline, and somatic mutations (mosaicism).
p.123
Genetic Variation and Mutation
Why is allelic balance important in gene expression?
It ensures proper function and regulation of genes.
p.3
Genetic Variation and Mutation
What are larger variations in genetics often associated with?
Long interspersed nuclear elements.
p.103
Coronary Artery Disease and Genetic Factors
What is the purpose of coronary artery bypass graft surgery?
To restore blood flow to the heart in open chest surgery.
p.107
Pharmacogenetics and Drug Response
Which enzyme do statins inhibit to lower cholesterol levels?
3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase.
p.106
Inborn Errors of Metabolism
What is the role of the LDLR family in cellular function?
They orchestrate cholesterol homeostasis.
p.43
Inborn Errors of Metabolism
What is an example of a Glycogen Storage Disease?
McArdle Disease (GSD - V).
p.130
Types of Genetic Inheritance
Can males transmit X-linked traits to their male children?
Yes, males can transmit X-linked traits to their male children.
p.106
Inborn Errors of Metabolism
What does LDLR stand for?
Low-Density Lipoprotein Receptor.
p.136
Multifactorial Inheritance and Complex Diseases
What is multifactorial inheritance?
Inheritance influenced by multiple genes and environmental factors.
p.128
Genetic Variation and Mutation
What is the mutation associated with Rett syndrome?
Mutation in the X-linked gene MECP2, which encodes a methyl-CpG binding protein.
p.129
Types of Genetic Inheritance
Who can affected males transmit Y-linked traits to?
Only to their male children.
p.138
Common Genetic Disorders
How is the relative risk ratio calculated?
It is calculated by dividing the risk of the event in the exposed group by the risk in the unexposed group.
p.134
Genetic Variation and Mutation
What are dynamic mutations characterized by?
Anticipation and DNA repeat expansion.
p.120
Genetic Variation and Mutation
What is germline mosaicism?
A condition where several offspring have a disease, but there are no other cases in the family history.
p.111
Types of Genetic Inheritance
What is unifactorial inheritance?
Inheritance of a genetic disease caused by a single gene.
p.138
Types of Genetic Inheritance
What is an example of a qualitative trait?
Examples include flower color in plants or blood type in humans.
p.98
Diabetes Mellitus Types and Management
What does AMPK stand for?
AMP-activated protein kinase.
p.120
Genetic Variation and Mutation
What factors can affect the expression of disease-causing genes?
Various genetic and environmental factors can influence gene expression.
p.111
Types of Genetic Inheritance
What is autosomal inheritance?
A disorder or trait carried by a gene on an autosome.
p.137
Multifactorial Inheritance and Complex Diseases
What type of traits are involved in multifactorial inheritance?
Quantitative traits and qualitative traits.
p.103
Coronary Artery Disease and Genetic Factors
What is balloon angioplasty used for?
To widen blocked arteries and smoosh down plaque buildup.
p.107
Pharmacogenetics and Drug Response
What is the primary function of statins?
To reduce the endogenous synthesis of cholesterol.
p.123
Genetic Variation and Mutation
What can allelic imbalance lead to?
Potentially harmful effects, including disease susceptibility.
p.103
Coronary Artery Disease and Genetic Factors
What does enhanced external counterpulsation do?
Stimulates the formation of new small blood vessels to naturally bypass clogged arteries.
p.129
Types of Genetic Inheritance
How common are Y-linked traits?
They are very rare due to few genes on the Y chromosome.
p.106
Inborn Errors of Metabolism
What is ARH in relation to LDLR?
ARH is also known as LDLR adaptor protein.
p.12
Detection of Genetic Variations
What is the purpose of the blood test in immunological methods?
To detect the presence of antibodies and antigens.
p.121
Types of Genetic Inheritance
Can individuals with Huntington disease express the gene mutation?
They may have the gene mutation but not express the disease phenotype.
p.104
Coronary Artery Disease and Genetic Factors
What is Familial Combined Hyperlipidemia (FCH)?
A disorder that causes high cholesterol and high blood triglycerides.
p.108
Pharmacogenetics and Drug Response
What is the mechanism of action of statins?
They inhibit HMG-CoA reductase, an enzyme involved in cholesterol synthesis.
p.105
Common Genetic Disorders
What is familial hypercholesterolemia (FH)?
An inherited condition characterized by very high levels of cholesterol in the blood.
p.126
Types of Genetic Inheritance
Who is more likely to express X-linked recessive traits, males or females?
Males, because they have only one X chromosome.
p.137
Multifactorial Inheritance and Complex Diseases
What is an example of a qualitative trait?
Presence or absence of a disease.
p.14
Detection of Genetic Variations
What is the primary purpose of PCR?
To amplify specific DNA sequences.
p.69
Common Genetic Disorders
What is the primary cause of the rigid structure of red blood cells in Sickle Cell Disease?
The polymerization of HbS.
p.21
Detection of Genetic Variations
What are allele-specific oligonucleotide (ASO) probes used for?
They are used for mutation detection.
p.127
Types of Genetic Inheritance
How do affected men transmit the disease in X-linked dominant inheritance?
To all of their female children but not to male children.
p.54
Pharmacogenetics and Drug Response
What does a discontinuous trimodal distribution indicate?
Monogenic control when RR and Rr are distinguishable.
p.117
Types of Genetic Inheritance
What is the recurrence risk for autosomal dominant traits?
50% no matter how many children are born.
p.15
Detection of Genetic Variations
How is cDNA synthesized?
By reverse transcription of mRNA.
p.81
Common Genetic Disorders
What causes Thalassemia?
Extensive deletion in the beta-globin region.
p.32
Inborn Errors of Metabolism
What are the consequences of Inborn Errors of Metabolism?
They lead to metabolic diseases.
p.23
Detection of Genetic Variations
What type of DNA analysis is performed in forensic matching?
Multiple polymorphisms are analyzed.
p.61
Detection of Genetic Variations
What does the R state of hemoglobin indicate?
A high affinity for oxygen.
p.123
Genetic Variation and Mutation
What does allelic imbalance refer to?
A condition where one allele is expressed more than the other.
p.86
Diabetes Mellitus Types and Management
What characterizes Type 1 DM?
Autoimmune beta-cell destruction and ketonuria.
p.10
Genetic Variation and Mutation
What is an example of selection pressure that affects genetic variation?
Heterozygote advantage for malaria resistance in sickle cell anemia mutation.
p.118
Types of Genetic Inheritance
Can the same disease have both dominant and recessive inheritance?
Yes, depending on different mutant alleles of the same gene.
p.10
Genetic Variation and Mutation
What is genetic drift and how does it affect smaller populations?
Genetic drift leads to random changes in allele frequencies, particularly pronounced in smaller populations, and includes phenomena like the founder effect.
p.10
Genetic Variation and Mutation
What is gene flow in the context of genetic variation?
It refers to the slow diffusion of alleles across boundaries in populations that exchange migrants.
p.115
Common Genetic Disorders
In which population is Tay-Sachs disease significantly more common?
In Ashkenazi Jews, it is 100 times more common.
p.125
Types of Genetic Inheritance
How is the disease transmitted from female carriers to their children?
Heterozygous female carriers transmit the disease to their male children, but not from father to son.
p.115
Common Genetic Disorders
What is a notable characteristic of hemochromatosis in terms of gender prevalence?
It is 5-10 times more common in men.
p.108
Pharmacogenetics and Drug Response
What are statins primarily used for?
To lower cholesterol levels in the blood.
p.128
Common Genetic Disorders
What happens to males with Rett syndrome?
Males almost always die before birth.
p.98
Diabetes Mellitus Types and Management
What is the 'ominous octet' in relation to Type 2 Diabetes Mellitus?
It shows the mechanism and site of action of glucose-lowering medications based on pathophysiologic disturbances present in T2DM.
p.134
Genetic Variation and Mutation
What is anticipation in the context of genetic diseases?
Earlier or more severe expression of a genetic disease in more recent generations.
p.100
Coronary Artery Disease and Genetic Factors
What is Coronary Artery Disease (CAD)?
A condition characterized by the narrowing or blockage of coronary arteries due to plaque buildup.
p.133
Genetic Variation and Mutation
What is genomic imprinting similar to?
X-chromosome inactivation.
p.126
Types of Genetic Inheritance
What is X-linked recessive inheritance?
A pattern of inheritance where a gene causing a trait or disorder is located on the X chromosome and is recessive.
p.122
Types of Genetic Inheritance
What is allelic heterogeneity?
Different types of mutations at the same disease locus.
p.116
Types of Genetic Inheritance
What type of inheritance is characterized by disease in both homozygous and heterozygous states?
Autosomal dominant inheritance.
p.135
Types of Genetic Inheritance
What type of genetic mutation causes Fragile X Syndrome?
X-linked dominant mutation.
p.98
Diabetes Mellitus Types and Management
What does NF-κB stand for?
Nuclear factor kappa-light-chain-enhancer of activated B cells.
p.136
Multifactorial Inheritance and Complex Diseases
What are modern approaches to studying multifactorial inheritance?
Omics approaches, which include genomics, proteomics, and metabolomics.
p.101
Coronary Artery Disease and Genetic Factors
What is a major risk factor for coronary artery disease (CAD) related to blood composition?
High blood cholesterol levels.
p.114
Types of Genetic Inheritance
What type of inheritance is characterized by a disease occurring only if the mutant allele is present in a double dose?
Autosomal recessive inheritance.
p.101
Coronary Artery Disease and Genetic Factors
How does high blood pressure contribute to CAD?
It increases the strain on the heart and blood vessels.
p.88
Types of Genetic Inheritance
Does Type 2 diabetes have a clear pattern of inheritance?
No, it does not have a clear pattern of inheritance.
p.119
Genetic Variation and Mutation
What is pleiotropy?
One gene, many functional outcomes.
p.125
Types of Genetic Inheritance
Which gender is primarily affected by X-linked recessive diseases?
Males are mostly affected.
p.125
Types of Genetic Inheritance
Can affected males transfer the disease gene to their offspring?
Yes, affected males can transfer the disease gene to their female children, making them carriers.
p.134
Genetic Variation and Mutation
What causes dynamic mutations?
Expansion of DNA repeats in the affected gene, most commonly trinucleotide repeats.
p.135
Types of Genetic Inheritance
Why is Fragile X Syndrome more frequent in males?
Due to X-chromosome inactivation in females.
p.75
Common Genetic Disorders
What appearance do red blood cells have when stained with brilliant cresyl blue in Hemoglobin H disease?
Golf ball-like appearance.
p.140
Common Genetic Disorders
What type of disorder is Alzheimer’s Disease?
Chronic and progressive disorder.
p.137
Multifactorial Inheritance and Complex Diseases
What are examples of quantitative traits?
Height, weight, blood pressure, glucose concentration in blood.
p.139
Types of Genetic Inheritance
What is the purpose of adoption studies in genetics?
To assess the influence of environment by adopting children from affected parents into families without the disease.
p.116
Types of Genetic Inheritance
What is the genetic representation of an unaffected parent in autosomal dominant inheritance?
aa (homozygous recessive).
p.141
Common Genetic Disorders
What are some cardiovascular risk factors associated with Alzheimer's Disease?
Type II Diabetes, hypertension, smoking, obesity, low HDL, low physical activity.
p.16
Detection of Genetic Variations
What is the process of creating a recombinant DNA fragment?
Cloning and recombining plasmid DNA.
p.81
Common Genetic Disorders
What is Thalassemia characterized by?
Absent or underproduction of both δ- and beta-globin chains.
p.23
Detection of Genetic Variations
What is the purpose of forensic matching of DNA samples?
To compare suspect DNA with DNA from the crime scene.
p.16
Detection of Genetic Variations
What is the purpose of incubating plasmid DNA from bacteria?
To introduce DNA of interest into the cells.
p.84
Diabetes Mellitus Types and Management
What is hyperglycemia?
Elevated levels of blood glucose.
p.32
Inborn Errors of Metabolism
What does excess substrate refer to in metabolic diseases?
Accumulation of substances that cannot be properly metabolized.
p.84
Diabetes Mellitus Types and Management
Is diabetes a chronic condition?
Yes, diabetes is a chronic medical condition that lasts a lifetime.
p.61
Detection of Genetic Variations
What causes hemoglobin to change its conformation?
The binding and release of oxygen.
p.142
Common Genetic Disorders
Which genes are involved in Late Onset Alzheimer’s Disease according to GWAS?
CLU, CR1, CD33, EPHA1, PICALM, BIN1, and CD2AP.
p.138
Common Genetic Disorders
What does the relative risk ratio indicate?
The relative risk ratio indicates the likelihood of an event occurring in one group compared to another group.
p.130
Types of Genetic Inheritance
What type of inheritance is associated with genes on the X chromosome?
Pseudoautosomal inheritance.
p.75
Common Genetic Disorders
What is the consequence of excess beta-globin in Hemoglobin H disease?
Formation of a beta-globin tetramer called 'Hb H'.
p.109
Pharmacogenetics and Drug Response
What do bile acid sequestrants do?
They decrease the amount of fat absorbed from food.
p.125
Types of Genetic Inheritance
What is a consequence of female carriers having male grandchildren?
Some of the male grandchildren may inherit the disease.
p.125
Types of Genetic Inheritance
What are some examples of X-linked recessive disorders?
Red-green color blindness, Hemophilia A & B, Duchenne muscular dystrophy.
p.134
Genetic Variation and Mutation
What is a common feature of parental bias in dynamic mutations?
Repeats expand more in either father or mother transmission.
p.137
Multifactorial Inheritance and Complex Diseases
Are the risks for multifactorial diseases specific to a population?
Yes, they are specific to a given population.
p.126
Types of Genetic Inheritance
What is the probability of a son inheriting an X-linked recessive disorder from his mother?
50%, if the mother is a carrier.
p.126
Types of Genetic Inheritance
What is the probability of a daughter becoming a carrier of an X-linked recessive disorder?
50%, if her mother is a carrier.
p.140
Common Genetic Disorders
What are some symptoms of Alzheimer’s Disease?
Loss of memory, thinking, language skills, and behavioral changes.
p.117
Types of Genetic Inheritance
What is a notable feature of autosomal dominant inheritance regarding generations?
There are no skipped generations.
p.17
Detection of Genetic Variations
What is the theoretical amplification formula in PCR?
2^n, where n is the number of cycles.
p.116
Types of Genetic Inheritance
What does 'Aa' represent in the context of autosomal dominant inheritance?
A heterozygous individual with one affected allele.
p.127
Types of Genetic Inheritance
What is an example of a condition associated with X-linked dominant inheritance?
Hypophosphatemic rickets (vitamin D-resistant).
p.30
Detection of Genetic Variations
What is the primary purpose of GWAS?
To identify genetic variants associated with specific diseases or traits.
p.80
Common Genetic Disorders
What is the main characteristic of Beta-Thalassemia major?
Complete absence of beta-globin.
p.42
Inborn Errors of Metabolism
What is the inheritance pattern of most Glycogen Storage Diseases?
Most are autosomal recessive.
p.141
Common Genetic Disorders
What factors related to social and cognitive engagement can influence Alzheimer's Disease risk?
Hearing loss, alcohol abuse, depression.
p.46
Common Genetic Disorders
What is Familial Hypercholesterolemia?
A disorder of lipid metabolism characterized by high cholesterol levels.
p.34
Inborn Errors of Metabolism
What is an example of a disorder of lipid metabolism?
Familial Hypercholesterolemia.
p.35
Inborn Errors of Metabolism
What is Phenylketonuria (PKU)?
A disorder of amino acid metabolism.
p.92
Detection of Genetic Variations
What do the variables 'a', 'b', 'c', and 'd' represent in the odds ratio calculation?
'a' is the frequency of Allele 1 in patients, 'b' is the combined frequency of all other alleles in patients, 'c' is the frequency of Allele 1 in controls, and 'd' is the combined frequency of all other alleles in controls.
p.103
Coronary Artery Disease and Genetic Factors
Is enhanced external counterpulsation an invasive procedure?
No, it is a noninvasive procedure.
p.120
Genetic Variation and Mutation
What is a new mutation in the germline?
A mutation that causes a disease in one child with no other family history of the disease.
p.136
Multifactorial Inheritance and Complex Diseases
What interactions are involved in multifactorial traits?
Gene-gene and gene-environment interactions.
p.129
Types of Genetic Inheritance
What are some examples of Y-linked inheritance conditions?
Azoospermia and abnormal testicle development.
p.109
Pharmacogenetics and Drug Response
What is the function of cholesterol absorption inhibitors?
They decrease the amount of cholesterol absorbed from food and lower triglycerides.
p.98
Diabetes Mellitus Types and Management
What is the role of DPP4 in Type 2 Diabetes Mellitus?
Dipeptidyl peptidase 4 is involved in glucose metabolism.
p.139
Types of Genetic Inheritance
What does it mean if both twins have the trait in a twin study?
They are considered concordant.
p.139
Types of Genetic Inheritance
What does it mean if twins do not share the trait?
They are considered discordant.
p.117
Types of Genetic Inheritance
What is a key characteristic of vertical inheritance?
If children have it, then parents have it too.
p.124
Genetic Variation and Mutation
What epigenetic modifications are involved in X-chromosome inactivation?
DNA methylation and histone acetylation.
p.14
Detection of Genetic Variations
What is cloning in the context of DNA technology?
The process of creating identical copies of DNA sequences.
p.111
Types of Genetic Inheritance
What is genomic imprinting?
A special type of inheritance where gene expression is affected by the parent of origin.
p.63
Genetic Variation and Mutation
What is the focus of Schechter's 2008 study regarding hemoglobin?
The developmental expression of hemoglobin.
p.24
Detection of Genetic Variations
What is the purpose of chromosome analysis?
To detect large scale variations.
p.15
Detection of Genetic Variations
What is a cDNA library?
A collection of complementary DNA (cDNA) sequences that represent the expressed genes of an organism.
p.101
Coronary Artery Disease and Genetic Factors
How does lack of physical activity contribute to CAD risk?
It can lead to obesity and poor cardiovascular health.
p.73
Common Genetic Disorders
What is the nature of Alpha-Thalassemia?
It is heterogeneous, with mild to severe forms.
p.15
Detection of Genetic Variations
What is the primary use of a cDNA library?
To study gene expression and identify expressed genes in a specific tissue or condition.
p.21
Detection of Genetic Variations
What type of mutations can ASO probes detect?
Single nucleotide polymorphisms (SNPs) and small insertions or deletions.
p.30
Detection of Genetic Variations
How do GWAS typically analyze genetic data?
By comparing the genomes of individuals with a particular trait or disease to those without.
p.41
Types of Genetic Inheritance
What type of inheritance is associated with Galactosemia?
Autosomal recessive inheritance.
p.32
Inborn Errors of Metabolism
What are toxic metabolites?
Byproducts that can accumulate due to metabolic disorders.
p.41
Common Genetic Disorders
What are some symptoms of Galactosemia?
Vomiting, jaundice, mental retardation, and liver cirrhosis.
p.46
Inborn Errors of Metabolism
How does free cholesterol affect LDL receptor synthesis?
Free cholesterol binds to LDL receptor, inhibiting de novo intracellular cholesterol synthesis and LDL receptor synthesis.
p.23
Detection of Genetic Variations
What samples are compared in forensic DNA matching?
Suspect DNA sample and DNA sample from the crime scene.
p.29
Detection of Genetic Variations
What are single nucleotide polymorphisms (SNPs)?
Genetic variations that occur when a single nucleotide in the genome is altered.
p.120
Genetic Variation and Mutation
What is a chimera in genetics?
An organism containing cells from two different zygotes, which can lead to mosaicism.
p.139
Types of Genetic Inheritance
What are the two types of twins studied in twin studies?
Monozygotic (identical) and dizygotic (fraternal) twins.
p.134
Genetic Variation and Mutation
What is an example of a disease caused by dynamic mutations?
Myotonic dystrophy, which involves CTG trinucleotide expansion in the 3’ untranslated region of the DMPK gene.
p.98
Diabetes Mellitus Types and Management
What are TZDs?
Thiazolidinediones, a class of medications used to treat Type 2 Diabetes Mellitus.
p.100
Coronary Artery Disease and Genetic Factors
What are potential symptoms of Coronary Artery Disease?
Chest pain (angina), shortness of breath, and fatigue.
p.105
Genetic Variation and Mutation
What are the main genetic causes of familial hypercholesterolemia?
Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene.
p.100
Coronary Artery Disease and Genetic Factors
What are some treatment options for CAD?
Lifestyle changes, medications, and surgical procedures like angioplasty or bypass surgery.
p.137
Multifactorial Inheritance and Complex Diseases
What happens to the distribution of traits as more factors (genes) are involved?
It gets closer to a normal distribution.
p.117
Types of Genetic Inheritance
What transmission pattern is common in autosomal dominant inheritance?
Father to son transmission.
p.76
Common Genetic Disorders
What does Beta-Thalassemia result in regarding beta-globin chains?
Reduced or absent beta-globin chain.
p.30
Detection of Genetic Variations
What does GWAS stand for?
Genome-wide association studies.
p.70
Common Genetic Disorders
What is the condition of heterozygous HbS?
Heterozygous sickle cells have mild anemia.
p.32
Inborn Errors of Metabolism
What causes Inborn Errors of Metabolism?
Defects in enzymes or transport proteins.
p.24
Detection of Genetic Variations
What technique is used for spectral karyotype analysis?
A method to visualize and analyze chromosomes using different colors.
p.101
Coronary Artery Disease and Genetic Factors
What role does family history play in CAD risk?
A family history of CAD increases individual risk.
p.84
Diabetes Mellitus Types and Management
What does the term 'sweet urine' refer to in the context of diabetes?
It refers to the spillage of glucose into the urine due to elevated blood glucose levels.
p.60
Common Genetic Disorders
What are the two main components of hemoglobin?
Heme (iron) and Globin (protein).
p.30
Detection of Genetic Variations
What is a key outcome of GWAS?
Identification of genetic risk factors for complex diseases.
p.60
Common Genetic Disorders
What is the structural classification of hemoglobin?
Hetero-tetramer (quaternary structure) with 2 alpha and 2 beta subunits.
p.20
Detection of Genetic Variations
What is the purpose of Southern blotting?
To transfer DNA from a gel to a membrane for analysis.
p.40
Types of Genetic Inheritance
What type of inheritance is associated with Maple Syrup Urine Disease?
Autosomal recessive inheritance.
p.35
Inborn Errors of Metabolism
What can happen if PKU is left untreated?
It can lead to intellectual disability and other neurological issues.
p.51
Pharmacogenetics and Drug Response
What is pharmacokinetics?
The metabolism of drugs, including uptake, conversion, and breakdown.
p.45
Common Genetic Disorders
What disorder is characterized by high cholesterol levels and risk for coronary artery disease?
Familial Hypercholesterolemia.
p.74
Common Genetic Disorders
What is the condition characterized by the complete absence of alpha-globin proteins?
Alpha-Thalassemia: Hydrops fetalis.
p.104
Coronary Artery Disease and Genetic Factors
What is known about the pathogenesis of Familial Combined Hyperlipidemia?
The pathogenesis is unknown.
p.111
Types of Genetic Inheritance
What are the two types of autosomal inheritance?
Autosomal dominant inheritance and autosomal recessive inheritance.
p.104
Coronary Artery Disease and Genetic Factors
What characterizes Familial Hypercholesterolemia (FH)?
Very high levels of cholesterol in the blood.
p.14
Detection of Genetic Variations
What does PCR stand for in DNA technology?
Polymerase Chain Reaction.
p.104
Coronary Artery Disease and Genetic Factors
What is the molecular basis for Familial Hypercholesterolemia?
Different mutations in the LDL receptor gene.
p.122
Types of Genetic Inheritance
What is the impact of environmental factors on disease severity?
Factors like diet, exercise, and exposure to harmful agents can influence severity.
p.126
Common Genetic Disorders
What is an example of an X-linked recessive disorder?
Hemophilia or Duchenne muscular dystrophy.
p.117
Types of Genetic Inheritance
How does autosomal dominant inheritance affect males and females?
It affects approximately equal numbers of both genders.
p.111
Types of Genetic Inheritance
What does anticipation refer to in genetics?
A phenomenon where genetic disorders manifest at an earlier age or with increased severity in successive generations.
p.21
Detection of Genetic Variations
How do ASO probes work in mutation detection?
They bind specifically to target alleles, allowing for the identification of mutations.
p.22
Detection of Genetic Variations
What is one method used to detect mutations in restriction sites?
Restriction fragment length polymorphism (RFLP).
p.24
Detection of Genetic Variations
What does FISH stand for?
Fluorescent in situ hybridization.
p.48
Inborn Errors of Metabolism
What is the primary function of mitochondria?
To produce ATP from electron transport.
p.127
Types of Genetic Inheritance
What are the possible offspring outcomes from an affected mother and an unaffected father in X-linked dominant inheritance?
50% daughters affected, 50% sons unaffected.
p.127
Types of Genetic Inheritance
What are the possible offspring outcomes from an affected father and an unaffected mother in X-linked dominant inheritance?
All daughters affected, no sons affected.
p.41
Inborn Errors of Metabolism
What is Galactosemia?
A disorder of carbohydrate (monosaccharide) metabolism caused by a deficiency of galactose 1-phosphate uridyl transferase (GALT).
p.73
Common Genetic Disorders
What causes the symptoms of Alpha-Thalassemia?
The underproduction of alpha-globin chains.
p.42
Inborn Errors of Metabolism
What happens to glycogen in Glycogen Storage Diseases?
There is no breakdown of glycogen.
p.142
Types of Genetic Inheritance
What type of inheritance is associated with ApoE e4?
Semidominant inheritance.
p.131
Types of Genetic Inheritance
What type of inheritance is mitochondrial inheritance?
Only transmitted by mothers.
p.27
Detection of Genetic Variations
What does RNA sequencing (RNA-seq) analyze?
The quantity and sequences of RNA in a sample.
p.52
Pharmacogenetics and Drug Response
Where can drug modification occur?
In different organs depending on the drug type.
p.84
Diabetes Mellitus Types and Management
What do people with diabetes need to do to stay healthy?
They need to manage their disease.
p.29
Detection of Genetic Variations
How are SNPs associated with diseases?
Certain SNPs can increase the risk of developing specific diseases.
p.50
Inborn Errors of Metabolism
What causes Leigh Disease?
It is a severe form of the NARP mutation with a higher proportion of mutations in mitochondrial DNA (mtDNA).
p.97
Diabetes Mellitus Types and Management
What does the Fasting Plasma Glucose (FPG) test check?
Fasting blood glucose levels.
p.49
Inborn Errors of Metabolism
What is MERRF?
Myoclonic Epilepsy and Ragged Red Fiber Disease, a disorder affecting tRNA production.
p.109
Pharmacogenetics and Drug Response
How does nicotinic acid (niacin) affect cholesterol levels?
It lowers LDL (bad) cholesterol and triglycerides while raising HDL (good) cholesterol.
p.133
Genetic Variation and Mutation
What is a common feature of imprinted genes?
They are usually heavily methylated, resulting in chromatin condensation.
p.111
Types of Genetic Inheritance
What is sex chromosome-linked inheritance?
A disorder or trait carried by a gene on one of the sex chromosomes.
p.133
Genetic Variation and Mutation
What do clinical features of imprinted genes depend on?
The 'parent of origin' for the particular gene.
p.111
Types of Genetic Inheritance
What are the types of sex chromosome-linked inheritance?
X-linked dominant, X-linked recessive, and Y-linked inheritance.
p.124
Genetic Variation and Mutation
What is the role of long non-coding RNA (XIST) in X-chromosome inactivation?
It is involved in the epigenetic mechanism of inactivation.
p.116
Types of Genetic Inheritance
What is the inheritance pattern of Postaxial Polydactyly?
Autosomal dominant inheritance.
p.98
Diabetes Mellitus Types and Management
What does TLR4 refer to?
Toll-like receptor 4, which plays a role in the immune response related to T2DM.
p.133
Common Genetic Disorders
What are the clinical features of Angelman Syndrome?
Severe intellectual disability, seizures, ataxic gait.
p.126
Types of Genetic Inheritance
Can a father pass an X-linked recessive trait to his son?
No, because sons inherit the Y chromosome from their father.
p.42
Inborn Errors of Metabolism
What are Glycogen Storage Diseases (GSDs)?
Disorders affecting glycogen synthesis and degradation.
p.114
Types of Genetic Inheritance
List two other examples of autosomal recessive diseases.
Oculocutaneous albinism and Tay-Sachs disease.
p.124
Types of Genetic Inheritance
What does extreme allelic imbalance refer to in the context of X-chromosome inactivation?
It refers to the unequal expression of alleles due to X-chromosome inactivation.
p.53
Pharmacogenetics and Drug Response
What is the first step in studying drug metabolism kinetics?
Giving a standard dose of the drug.
p.73
Common Genetic Disorders
What is Alpha-Thalassemia?
A condition characterized by the underproduction of alpha-globin chains.
p.53
Pharmacogenetics and Drug Response
What is measured after administering a standard dose of a drug?
The response and amount of circulating drugs after an appropriate time.
p.141
Common Genetic Disorders
How does traumatic head injury relate to Alzheimer's Disease?
It is a risk factor for developing the disease.
p.84
Diabetes Mellitus Types and Management
What is diabetes?
A group of metabolic diseases characterized by high blood sugar levels due to defects in insulin secretion or action.
p.22
Detection of Genetic Variations
What polymorphisms can RFLP detect that are useful in forensics?
STR (Short Tandem Repeat) and VNTR (Variable Number Tandem Repeat) polymorphisms.
p.92
Detection of Genetic Variations
What does the odds ratio indicate?
It indicates how much more frequently a disease occurs in individuals with a specific marker compared to those without it.
p.141
Common Genetic Disorders
How does air pollution relate to Alzheimer's Disease?
It is considered a risk factor.
p.36
Inborn Errors of Metabolism
Which enzyme is deficient in Phenylketonuria (PKU)?
Phenylalanine hydroxylase (PAH).
p.52
Pharmacogenetics and Drug Response
What happens to most drugs after absorption?
They undergo biochemical modification.
p.89
Diabetes Mellitus Types and Management
What are the major problems associated with Type 2 Diabetes Mellitus?
Insulin resistance and impaired insulin secretion.
p.83
Common Genetic Disorders
Why are common diseases expected to be more important in the future?
Because the elderly will account for an increasing proportion of the population.
p.13
Common Genetic Disorders
How does the sickle cell gene affect protein structure?
It alters the hemoglobin protein, leading to sickle-shaped red blood cells.
p.90
Diabetes Mellitus Types and Management
How does physical inactivity relate to Type 2 diabetes?
It is one of the top modifiable risk factors for prediabetes and Type 2 diabetes.
p.26
Detection of Genetic Variations
What is the primary purpose of Next Generation Sequencing?
To determine the sequence of nucleotides in DNA.
p.137
Multifactorial Inheritance and Complex Diseases
How are risks for multifactorial diseases measured?
Based on studies of large collections of families.
p.105
Common Genetic Disorders
How common is familial hypercholesterolemia?
It affects an estimated 1 in 200 to 1 in 250 people in most countries.
p.126
Types of Genetic Inheritance
How can females be carriers of X-linked recessive traits?
Females have two X chromosomes, so they can carry one affected X and one normal X without expressing the trait.
p.100
Coronary Artery Disease and Genetic Factors
How can genetics influence the risk of CAD?
Family history and genetic predispositions can increase the likelihood of developing CAD.
p.105
Common Genetic Disorders
What is the frequency of elevated blood cholesterol levels in American adults?
More than 34 million American adults have levels higher than 240 mg/dL.
p.98
Diabetes Mellitus Types and Management
What is the significance of ROS in Type 2 Diabetes Mellitus?
Reactive oxygen species are involved in the pathophysiology of T2DM.
p.111
Types of Genetic Inheritance
What is mitochondrial inheritance?
A disorder or trait carried by a gene on the mitochondrial chromosome.
p.122
Types of Genetic Inheritance
What is the relationship between disease expressivity and mutations?
Different mutations in the same locus can cause the same phenotype.
p.137
Multifactorial Inheritance and Complex Diseases
How do quantitative traits typically distribute when measured on a continuous scale?
They often follow a normal distribution.
p.139
Types of Genetic Inheritance
How do twin studies help separate genes and environment?
By comparing traits in monozygotic and dizygotic twins.
p.101
Coronary Artery Disease and Genetic Factors
How does being overweight or obese affect the risk of CAD?
It increases the likelihood of high blood pressure and diabetes.
p.76
Common Genetic Disorders
What is the main characteristic of Beta-Thalassemia?
Underproduction of beta-globin.
p.42
Inborn Errors of Metabolism
What is an example of Glycogen Storage Disease?
von Gierke Disease (GSD - I).
p.59
Common Genetic Disorders
What is the primary function of erythrocytes?
To transport oxygen and bicarbonate.
p.69
Common Genetic Disorders
What is the effect of HbS polymerization on red blood cells?
It causes the red blood cells to become rigid.
p.11
Detection of Genetic Variations
How can you convert RNA to DNA for genetic analysis?
Using reverse transcription (RT).
p.21
Detection of Genetic Variations
What is the significance of using ASO probes in genetics?
They enable the detection of specific genetic variations associated with diseases.
p.13
Detection of Genetic Variations
What is the purpose of protein electrophoresis?
To separate proteins based on their size and charge.
p.45
Coronary Artery Disease and Genetic Factors
What is a significant risk factor for early coronary artery disease?
Raise in cholesterol levels.
p.11
Detection of Genetic Variations
What does hybridization help detect in genetic variations?
Changes in the sequence or amount of DNA.
p.7
Genetic Variation and Mutation
What is the significance of studying human genetic variation?
It helps in understanding evolution, disease susceptibility, and personalized medicine.
p.7
Genetic Variation and Mutation
What role does mutation play in genetic variation?
Mutations introduce new genetic material into a population, contributing to diversity.
p.47
Inborn Errors of Metabolism
What is Lesch-Nyhan Syndrome caused by?
A deficiency of hypoxanthine guanine phosphoribosyltransferase (HGPRT).
p.77
Common Genetic Disorders
What is Beta-Thalassemia?
A genetic blood disorder characterized by reduced production of hemoglobin.
p.97
Diabetes Mellitus Types and Management
At what A1C level is diabetes diagnosed?
Greater than or equal to 6.5%.
p.109
Pharmacogenetics and Drug Response
What are combination medicines in cholesterol treatment?
They include more than one type of cholesterol-lowering medicine.
p.111
Types of Genetic Inheritance
What are special types of inheritance?
Epigenetic mechanisms and repeat expansion.
p.127
Types of Genetic Inheritance
Are skipped generations common in X-linked dominant inheritance?
No, skipped generations are not common.
p.116
Types of Genetic Inheritance
What is the probability of offspring being affected if one parent is Aa and the other is aa?
50% chance of Aa (affected) and 50% chance of aa (unaffected).
p.18
Detection of Genetic Variations
What is another common qPCR assay used for detecting specific DNA sequences?
Quantitative PCR (qPCR) with SYBR Green or TaqMan probes.
p.101
Coronary Artery Disease and Genetic Factors
How does older age affect the risk of CAD?
The risk increases as age advances.
p.141
Common Genetic Disorders
How does low formal education relate to Alzheimer's Disease?
It is associated with lower cognitive 'resilience'.
p.7
Genetic Variation and Mutation
How does genetic variation affect populations?
It influences traits, adaptability, and susceptibility to diseases.
p.45
Common Genetic Disorders
What is xanthomata?
Subcutaneous lipid deposition.
p.83
Common Genetic Disorders
What are some examples of common diseases?
Diabetes, cancer, cardiovascular disease, coronary artery disease, and neurodegenerative disorders.
p.40
Inborn Errors of Metabolism
What is Maple Syrup Urine Disease (MSUD)?
A disorder caused by a deficiency of branched-chain ketoacid decarboxylase (BCKAD).
p.27
Detection of Genetic Variations
What is the primary purpose of RNA-seq?
To understand gene expression and regulation.
p.89
Diabetes Mellitus Types and Management
What is required to maintain normal glucose levels in Type 2 Diabetes?
Increased amounts of insulin.
p.90
Diabetes Mellitus Types and Management
What health issue is linked to the development of diabetes besides cardiovascular damage?
High blood pressure (hypertension).
p.29
Detection of Genetic Variations
What is the significance of detecting disease-associated SNPs?
It helps in understanding genetic predispositions and can guide personalized medicine.
p.89
Diabetes Mellitus Types and Management
What prevents the breakdown of fats and production of ketones in Type 2 Diabetes?
There is enough insulin present.
p.36
Inborn Errors of Metabolism
What physical traits are commonly associated with PKU?
Blond hair and blue eyes.
p.38
Inborn Errors of Metabolism
What are the visual effects of Oculocutaneous Albinism?
Abnormal visual function.
p.79
Genetic Variation and Mutation
What happens due to mutations in the 5’UTR or 3’UTR of beta-globin mRNA?
The mRNA becomes unstable, leading to reduced levels of beta-globin.
p.27
Detection of Genetic Variations
What technology is commonly used in RNA-seq?
Next-generation sequencing (NGS).
p.85
Diabetes Mellitus Types and Management
How does insulin affect blood glucose levels?
Insulin lowers blood glucose levels by facilitating cellular uptake of glucose.
p.131
Genetic Variation and Mutation
Why is mitochondrial inheritance considered rare and highly variable?
Because each mitochondrion contains its own genome.
p.6
Genetic Variation and Mutation
What are insertions in genetic mutations?
Addition of one or more nucleotide base pairs into a DNA sequence.
p.67
Genetic Variation and Mutation
What is a deletion mutation in hemoglobin?
One or more amino acids are deleted or missing; e.g., Hb Freiburg.
p.135
Genetic Variation and Mutation
What causes the disease in Fragile X Syndrome?
Repeat expansion in the FMR1 gene.
p.11
Detection of Genetic Variations
What is one method to detect genetic variations at the protein level?
Immunological and protein techniques.
p.98
Diabetes Mellitus Types and Management
What is TNF in the context of Type 2 Diabetes Mellitus?
Tumor necrosis factor, a cytokine involved in inflammation and insulin resistance.
p.54
Pharmacogenetics and Drug Response
What does a discontinuous bimodal distribution signify in drug metabolism?
Monogenic control when RR and Rr are indistinguishable.
p.65
Genetic Variation and Mutation
What is the significance of sequential expression in beta-like genes?
It is crucial for proper regulation and function of hemoglobin production.
p.61
Detection of Genetic Variations
What is the primary function of hemoglobin?
To transport oxygen in the blood.
p.22
Detection of Genetic Variations
What types of genetic changes can RFLP detect?
Insertions and deletions.
p.61
Detection of Genetic Variations
What are the two conformational states of hemoglobin?
R state (high affinity for oxygen) and T state (low affinity for oxygen).
p.34
Inborn Errors of Metabolism
What is a disorder of steroid metabolism?
Congenital Adrenal Hyperplasia.
p.48
Inborn Errors of Metabolism
What types of genes are contained in mitochondrial DNA?
Genes for rRNA, tRNA, and mitochondrial proteins involved in electron transport.
p.30
Detection of Genetic Variations
What type of genetic variations are commonly studied in GWAS?
Single nucleotide polymorphisms (SNPs).
p.61
Detection of Genetic Variations
What does the T state of hemoglobin indicate?
A low affinity for oxygen.
p.35
Inborn Errors of Metabolism
What causes Phenylketonuria (PKU)?
A deficiency in the enzyme phenylalanine hydroxylase.
p.51
Pharmacogenetics and Drug Response
What does pharmacogenomics study?
The entire genome related to drug response.
p.50
Inborn Errors of Metabolism
What is NARP syndrome?
A disorder characterized by neurodegeneration, ataxia, and retinitis pigmentosa, mostly caused by a single mutation in the gene coding for subunit 6 of ATPase.
p.58
Common Genetic Disorders
What is Familial Hypercholesterolemia?
A genetic disorder characterized by high cholesterol levels in the blood.
p.58
Common Genetic Disorders
What causes Familial Hypercholesterolemia?
It is caused by mutations in the LDLR gene, which affects the body's ability to remove low-density lipoprotein (LDL) cholesterol from the bloodstream.
p.8
Hardy-Weinberg Principle
What does the Hardy-Weinberg principle state about genotype proportions?
They remain constant from one generation to another.
p.28
Detection of Genetic Variations
How do DNA microarrays work?
They allow the simultaneous measurement of the expression levels of thousands of genes.
p.64
Genetic Variation and Mutation
What are the types of globin genes mentioned?
Alpha-like genes and Beta-like genes.
p.9
Types of Genetic Inheritance
Who can be distinguished in cystic fibrosis?
Only recessive homozygotes (aa) can be distinguished as they have the disease.
p.28
Detection of Genetic Variations
What is one advantage of using DNA microarrays?
They provide a high-throughput method for analyzing genetic information.
p.127
Types of Genetic Inheritance
In X-linked dominant inheritance, which gender is affected more frequently?
Females, twice as common as males.
p.18
Detection of Genetic Variations
What is a common type of qPCR assay used for gene expression analysis?
Reverse Transcription qPCR (RT-qPCR).
p.63
Genetic Variation and Mutation
What does the study indicate about hemoglobin during development?
Different combinations of hemoglobin (Hb) are present.
p.7
Genetic Variation and Mutation
What is human genetic variation?
The diversity in gene frequencies among individuals within a population.
p.42
Inborn Errors of Metabolism
What are the consequences of defects in glycogen metabolism?
Glycogen accumulation or unavailability, hypoglycemia, liver impairment, and neurological abnormalities.
p.70
Common Genetic Disorders
How do heterozygous sickle cell disease individuals respond to malaria?
They express malaria and altered self-antigens more effectively.
p.59
Common Genetic Disorders
What shape do red blood cells have and why?
Flattened shape to increase surface area.
p.70
Common Genetic Disorders
What is the advantage of heterozygous sickle cell disease in malaria prevalence areas?
Higher chance to be removed from circulation, which is beneficial in malaria-prone areas.
p.21
Detection of Genetic Variations
What is a key advantage of using ASO probes?
High specificity for detecting particular alleles.
p.23
Detection of Genetic Variations
What are polymorphisms in the context of DNA?
Variations in the DNA sequence that can be analyzed for identification.
p.80
Common Genetic Disorders
What complications can arise from Beta-Thalassemia major?
Bone deformity and bone marrow expansion.
p.41
Inborn Errors of Metabolism
What is a key management strategy for Galactosemia?
Early screening and milk substitution.
p.46
Inborn Errors of Metabolism
What role does the LDL receptor play in cholesterol metabolism?
It facilitates intracellular cholesterol synthesis and dietary uptake.
p.89
Diabetes Mellitus Types and Management
Why does insulin become less effective in Type 2 Diabetes?
It cannot bind with special receptors, reducing its ability to stimulate glucose uptake and regulate glucose release.
p.31
Inborn Errors of Metabolism
What controls each step in metabolic processes?
At least one enzyme encoded by a particular gene.
p.79
Genetic Variation and Mutation
What type of mutation occurs at the 5’ regulatory region or promoter affecting beta-globin mRNA levels?
Transcription mutations, leading to reduced transcribed levels of beta-globin mRNA.
p.55
Pharmacogenetics and Drug Response
What is the role of N-Acetyltransferase in drug metabolism?
It acetylates isoniazid for inactivation and secretion.
p.27
Detection of Genetic Variations
What type of information can RNA-seq provide about genes?
It can reveal alternative splicing, gene fusions, and novel transcripts.
p.52
Pharmacogenetics and Drug Response
What is the effect of glucuronide conjugation on morphine?
It leads to the elimination of morphine.
p.89
Diabetes Mellitus Types and Management
What serious condition can uncontrolled Type 2 Diabetes lead to?
Hyperglycemic, hyperosmolar nonketotic syndrome.
p.58
Common Genetic Disorders
What are the potential health risks associated with Familial Hypercholesterolemia?
Increased risk of cardiovascular diseases, including heart attacks and strokes.
p.47
Common Genetic Disorders
What are some neurological symptoms of Lesch-Nyhan Syndrome?
Uncontrolled movement, mental retardation, and spasticity.
p.67
Genetic Variation and Mutation
What is a point mutation in hemoglobin?
Substitution of an amino acid or a missing amino acid; e.g., Hb S in sickle cell disease.
p.94
Inborn Errors of Metabolism
What role does the sulfonylurea receptor (SUR) play in the pancreas?
It is part of the ATP-sensitive potassium channel (KATP channel).
p.93
Diabetes Mellitus Types and Management
What is an important diabetes risk factor and drug target related to Type 2 Diabetes?
Peroxisome proliferator activated receptor gamma (PPAR γ).
p.4
Genetic Variation and Mutation
What are the types of mutations?
Mutations can be classified as point mutations, insertions, deletions, and duplications.
p.14
Detection of Genetic Variations
How does cloning help in DNA characterization?
It allows for the study of specific DNA sequences in detail.
p.48
Inborn Errors of Metabolism
What type of DNA is found in mitochondria?
Mitochondrial DNA (mtDNA), which is small, circular, and double-stranded.
p.7
Genetic Variation and Mutation
What factors contribute to human genetic variation?
Mutations, gene flow, genetic drift, and natural selection.
p.11
Detection of Genetic Variations
What is a common method to amplify DNA for detecting genetic variations?
Polymerase chain reaction (PCR).
p.80
Common Genetic Disorders
What type of anemia is associated with Beta-Thalassemia major?
Severe transfusion-dependent anemia.
p.16
Detection of Genetic Variations
What is a plasmid?
A small, circular DNA molecule used in genetic engineering.
p.15
Detection of Genetic Variations
Why is cDNA important in genetic research?
It allows researchers to clone and analyze genes that are actively expressed in cells.
p.51
Pharmacogenetics and Drug Response
What is pharmacogenetics?
The study of genes and their variations that influence the efficacy or side effects of drugs, leading to drug response variability.
p.97
Diabetes Mellitus Types and Management
What does the HbA1C test measure?
Average blood glucose for the past 2 to 3 months.
p.45
Types of Genetic Inheritance
What type of genetic inheritance is associated with Familial Hypercholesterolemia?
Autosomal dominant single gene disorders.
p.26
Detection of Genetic Variations
What does NGS stand for?
Next Generation Sequencing.
p.46
Inborn Errors of Metabolism
What happens to cholesterol synthesis when there is an excess of free cholesterol?
It leads to inhibition of both de novo intracellular cholesterol synthesis and LDL receptor synthesis.
p.131
Detection of Genetic Variations
How many mitochondrial genomes do most cells have?
Approximately 10,000 mt genomes.
p.50
Inborn Errors of Metabolism
What is the primary genetic cause of NARP?
A single mutation in the gene coding for subunit 6 of ATPase.
p.33
Inborn Errors of Metabolism
What is Phenylketonuria (PKU)?
A disorder of amino acid metabolism.
p.58
Types of Genetic Inheritance
How is Familial Hypercholesterolemia inherited?
It is inherited in an autosomal dominant manner.
p.26
Detection of Genetic Variations
What types of genetic variations can NGS detect?
NGS can detect single nucleotide polymorphisms (SNPs), insertions, deletions, and structural variations.
p.97
Diabetes Mellitus Types and Management
At what 2-hour blood glucose level is diabetes diagnosed in the OGTT?
Greater than or equal to 200 mg/dl.
p.55
Pharmacogenetics and Drug Response
What is the consequence of being a slow inactivator of isoniazid?
Low activity results in higher blood levels of isoniazid for a longer period, increasing the risk for side effects.
p.55
Pharmacogenetics and Drug Response
Why is maintaining blood levels of isoniazid important?
To ensure efficacy of the antituberculosis drug.
p.56
Pharmacogenetics and Drug Response
How long do the effects of Succinylcholine typically last?
A few minutes, due to the activity of pseudocholinesterase.
p.33
Inborn Errors of Metabolism
What is galactosemia?
A disorder of monosaccharide metabolism.
p.25
Detection of Genetic Variations
What is the output of Sanger DNA sequencing?
A series of fragments that can be analyzed to determine the DNA sequence.
p.92
Detection of Genetic Variations
How is the odds ratio calculated for disease association with a marker allele?
Using the formula: Odds ratio for Allele 1 = (a/c) ÷ (b/d).
p.81
Common Genetic Disorders
What compensatory mechanism occurs in Thalassemia?
Increase in HbF production (gamma-chain).
p.45
Genetic Variation and Mutation
What causes mutations in cholesterol biosynthesis and regulation?
Mutations in enzymes or transporters.
p.131
Genetic Variation and Mutation
What is the mutation rate of mitochondrial DNA (mtDNA) compared to nuclear DNA?
mtDNA has a 10 times higher mutation rate.
p.36
Inborn Errors of Metabolism
What effect does PKU have on melanin pigmentation?
It reduces melanin pigmentation.
p.19
Detection of Genetic Variations
What is nucleic acid hybridization?
A process where two complementary strands of nucleic acids bind to form a double-stranded molecule.
p.27
Detection of Genetic Variations
How does RNA-seq differ from traditional methods of studying RNA?
RNA-seq provides a more comprehensive and quantitative analysis of the transcriptome.
p.83
Common Genetic Disorders
Do common diseases have a single genetic cause?
No, they are likely associated with multiple genes and environmental factors.
p.26
Detection of Genetic Variations
How does NGS differ from traditional sequencing methods?
NGS allows for massively parallel sequencing, enabling the analysis of multiple DNA strands simultaneously.
p.51
Pharmacogenetics and Drug Response
How do genes affect drug response?
Individual differences in response to drugs are often genetically determined.
p.26
Detection of Genetic Variations
What are some applications of NGS?
Applications include genomics, transcriptomics, and personalized medicine.
p.29
Detection of Genetic Variations
Why are SNPs important in genetic research?
They serve as markers for identifying genes associated with diseases.
p.55
Pharmacogenetics and Drug Response
What is the effect of being a rapid inactivator of isoniazid?
High activity leads to a greater risk for liver damage.
p.49
Inborn Errors of Metabolism
What does MELAS stand for?
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
p.79
Genetic Variation and Mutation
What is the consequence of a missense mutation in beta-globin?
It leads to a highly unstable beta-globin chain.
p.58
Common Genetic Disorders
What are common symptoms of Familial Hypercholesterolemia?
Often asymptomatic, but can lead to xanthomas (cholesterol deposits) and premature heart disease.
p.62
Detection of Genetic Variations
What occurs when oxygen binds to hemoglobin?
Iron moves into the plane of the porphyrin ring.
p.94
Genetic Variation and Mutation
What specific mutation in the ABCC8 gene was observed in a Finnish family?
The switch of glutamate to lysine at residue 1506 (E1506K).
p.93
Diabetes Mellitus Types and Management
What is the common variant of PPAR γ 2 associated with Type 2 Diabetes?
A single nucleotide polymorphism (SNP) known as Pro12Ala.
p.67
Genetic Variation and Mutation
What are fusion polypeptides in hemoglobin?
They result from unequal crossover in meiosis; e.g., Hb Lepore.
p.68
Common Genetic Disorders
What is a consequence of sickle-shaped red blood cells in the body?
They become rigid and obstruct small arteries.
p.2
Genetic Variation and Mutation
What is the difference between population and individual in genetics?
Population refers to a group of individuals of the same species, while individual refers to a single organism.
p.31
Inborn Errors of Metabolism
What are Inborn Errors of Metabolism (IEM)?
Metabolic processes that involve multiple steps, each controlled by enzymes encoded by specific genes.
p.39
Inborn Errors of Metabolism
What is Oculocutaneous Albinism (OCA)?
A disorder of amino acid metabolism affecting pigmentation.
p.38
Inborn Errors of Metabolism
What is Oculocutaneous Albinism (OCA)?
A disorder characterized by a deficiency of the enzyme tyrosinase, leading to a lack of pigment in skin, hair, and iris.
p.77
Common Genetic Disorders
What are the main classifications of Beta-Thalassemia?
Beta-Thalassemia minor, Beta-Thalassemia intermedia, and Beta-Thalassemia major.
p.85
Diabetes Mellitus Types and Management
Why is glucose homeostasis important?
It is crucial for providing energy to cells and maintaining overall metabolic balance.
p.97
Diabetes Mellitus Types and Management
At what fasting blood glucose level is diabetes diagnosed?
Greater than or equal to 126 mg/dl.
p.31
Types of Genetic Inheritance
What are the common inheritance patterns for most Inborn Errors of Metabolism?
Most errors follow autosomal recessive or X-linked recessive inheritance.
p.39
Inborn Errors of Metabolism
What causes Type II OCA?
Mutation of the P gene (OCA2 gene) on chromosome 15q.
p.49
Inborn Errors of Metabolism
How is MERRF inherited?
Maternal inheritance through a point mutation for the lysine tRNA gene.
p.4
Genetic Variation and Mutation
How can mutations affect an organism's function?
Mutations can alter protein structure and function, potentially leading to changes in traits or diseases.
p.39
Inborn Errors of Metabolism
What is the characteristic of Type II OCA?
Tyrosinase positive with reduced but detectable activity.
p.72
Common Genetic Disorders
What happens when one chain is missing in Thalassemia?
It causes an excess of the partner chain.
p.67
Genetic Variation and Mutation
What occurs during an insertion mutation in hemoglobin?
A globin chain is added, making it longer; e.g., Hb Grady.
p.5
Genetic Variation and Mutation
What are induced mutations?
Mutations caused by external factors such as radiation or chemical agents.
p.67
Genetic Variation and Mutation
What is a frameshift mutation?
It disrupts the triplet reading frame, leading to shortened or elongated proteins; e.g., Hb Cranston.
p.82
Genetic Variation and Mutation
What genetic changes could lead to HPFH?
Deletion in δ- and beta-globin genes or mutation in the 5’ regulatory region for gamma-globin genes.
p.25
Detection of Genetic Variations
What is a limitation of Sanger sequencing?
It is relatively slow and not suitable for sequencing large genomes.
p.93
Diabetes Mellitus Types and Management
What advantage do individuals with the Pro12Ala variant have?
They have a degree of protection against insulin resistance and obesity.
p.34
Inborn Errors of Metabolism
What type of disorders affect mitochondrial function?
Disorders affecting tRNA production and electron transport.
p.85
Diabetes Mellitus Types and Management
What is glucose homeostasis?
The regulation of blood glucose levels within a narrow range.
p.35
Inborn Errors of Metabolism
How is PKU typically managed?
Through a strict diet low in phenylalanine.
p.51
Pharmacogenetics and Drug Response
What is pharmacodynamics?
The interaction between drugs and molecular targets, such as the binding between drugs and receptors.
p.79
Genetic Variation and Mutation
What is the effect of mRNA splicing mutations in beta-globin mRNA?
They cause abnormal splicing, resulting in reduced levels of beta-globin.
p.131
Detection of Genetic Variations
How many mitochondrial genomes do oocytes contain?
Approximately 100,000 mt genomes.
p.37
Inborn Errors of Metabolism
What type of inheritance pattern does Phenylketonuria (PKU) follow?
Autosomal recessive inheritance.
p.38
Inborn Errors of Metabolism
How is Oculocutaneous Albinism genetically characterized?
It is genetically and biochemically heterogeneous.
p.72
Common Genetic Disorders
How is Thalassemia classified?
By the missing chain (alpha or beta).
p.56
Pharmacogenetics and Drug Response
What is the primary use of Succinylcholine?
As a muscle relaxant during surgical operations.
p.57
Pharmacogenetics and Drug Response
What causes Neonatal Diabetes?
Mutations in KCNJ1 or ABCC8 genes for subunits Kir6.2 and SUR1.
p.6
Genetic Variation and Mutation
What are deletions in genetic mutations?
Removal of one or more nucleotide base pairs from a DNA sequence.
p.57
Pharmacogenetics and Drug Response
What is the effect of mutations in KCNJ1 or ABCC8 genes?
They prevent the closure of K-ATP channels.
p.49
Inborn Errors of Metabolism
How is MELAS inherited?
Maternal inheritance through a mutation for the leucine tRNA gene.
p.93
Diabetes Mellitus Types and Management
What role does PPAR γ play in the body?
It is a key regulator of fat cell differentiation.
p.57
Pharmacogenetics and Drug Response
How can Neonatal Diabetes be treated?
With Sulphonylurea instead of insulin.
p.57
Pharmacogenetics and Drug Response
What is a key difference in treatment for Neonatal Diabetes compared to typical diabetes?
No insulin secretion activation occurs with Sulphonylurea treatment.
p.25
Detection of Genetic Variations
What is one advantage of Sanger sequencing?
High accuracy in determining DNA sequences.
p.33
Inborn Errors of Metabolism
How do glycogen storage diseases differ in their effects?
They can affect the liver or muscle.
p.94
Common Genetic Disorders
What happens to beta cells' ability to secrete insulin by early adulthood in individuals with the E1506K mutation?
The ability to secrete adequate amounts of insulin is exhausted, leading to diabetes.
p.64
Genetic Variation and Mutation
What is the role of the locus control region (LCR) in globin genes?
It regulates the expression of globin genes.
p.83
Common Genetic Disorders
What is the genetic basis of common diseases primarily attributed to?
Inherited predisposition of genetic susceptibility.
p.40
Inborn Errors of Metabolism
Which branched amino acids are increased in urine due to MSUD?
Valine, leucine, and isoleucine.
p.39
Inborn Errors of Metabolism
What causes Type I OCA?
Mutation of the tyrosinase gene on chromosome 11q.
p.47
Types of Genetic Inheritance
What type of inheritance pattern does Lesch-Nyhan Syndrome follow?
X-linked recessive inheritance.
p.40
Inborn Errors of Metabolism
What happens if Maple Syrup Urine Disease is left untreated?
It can be lethal within a few weeks after birth.
p.29
Detection of Genetic Variations
What methods are commonly used to detect SNPs?
Techniques like genome-wide association studies (GWAS) and sequencing.
p.6
Genetic Variation and Mutation
What are point mutations?
Changes in a single nucleotide base pair in DNA.
p.97
Diabetes Mellitus Types and Management
What is the purpose of the Oral Glucose Tolerance Test (OGTT)?
To check blood glucose levels before and 2 hours after drinking a special sweet drink.
p.33
Inborn Errors of Metabolism
What is Oculocutaneous albinism (OCA)?
A disorder of amino acid metabolism.
p.85
Diabetes Mellitus Types and Management
What role does glucagon play in glucose homeostasis?
Glucagon raises blood glucose levels by promoting glycogen breakdown in the liver.
p.5
Genetic Variation and Mutation
What are spontaneous mutations?
Mutations that occur due to errors in DNA replication, recombination, or repair.
p.33
Inborn Errors of Metabolism
What is Maple syrup urine disease?
A disorder of branched-chain amino acid metabolism.
p.33
Inborn Errors of Metabolism
What are urea cycle disorders?
Disorders affecting the urea cycle, leading to ammonia accumulation.
p.56
Pharmacogenetics and Drug Response
What is the relationship between Succinylcholine sensitivity and pseudocholinesterase activity?
People with high sensitivity to Succinylcholine have significantly lower activity of pseudocholinesterase.
p.94
Pharmacogenetics and Drug Response
How does the E1506K mutation affect KATP channel activity?
It reduces the activity of KATP channels, increasing insulin secretion.
p.9
Common Genetic Disorders
What is the ratio of carriers to those with cystic fibrosis in the population?
Approximately 1 in 30 are carriers, while 1 in 2500 have cystic fibrosis.
p.2
Common Genetic Disorders
What are germline cells?
Cells that give rise to gametes (sperm and eggs).
p.99
Diabetes Mellitus Types and Management
What do Thiazolidinediones (TZD) do?
Help the cells use glucose.
p.131
Common Genetic Disorders
What is an example of a condition associated with mitochondrial inheritance?
Leber hereditary optic neuropathy.
p.36
Inborn Errors of Metabolism
What are some intellectual effects of Phenylketonuria?
Intellectual impairment and mental retardation.
p.20
Detection of Genetic Variations
What is hybridization in the context of Southern blotting?
The process of binding a specific probe to the target DNA.
p.28
Detection of Genetic Variations
What is the primary use of DNA microarrays?
To analyze gene expression and detect genetic variations.
p.82
Common Genetic Disorders
What does HPFH stand for?
Hereditary Persistence of Fetal Hemoglobin.
p.44
Inborn Errors of Metabolism
What is the primary deficiency in Congenital Adrenal Hyperplasia?
21-Hydroxylase deficiency.
p.4
Genetic Variation and Mutation
What is a mutation?
A change in the DNA sequence of an organism.
p.25
Detection of Genetic Variations
What is Sanger DNA sequencing?
A method for determining the nucleotide sequence of DNA.
p.19
Detection of Genetic Variations
How is nucleic acid hybridization commonly utilized in laboratory settings?
In techniques such as Southern blotting, Northern blotting, and in situ hybridization.
p.38
Inborn Errors of Metabolism
What is the primary physical characteristic of individuals with Oculocutaneous Albinism?
Lack of pigment in skin, hair, and iris.
p.26
Detection of Genetic Variations
What is a key advantage of using NGS in research?
It provides high-throughput data, allowing for comprehensive analysis of genetic material.
p.85
Diabetes Mellitus Types and Management
What is the consequence of impaired glucose homeostasis?
It can lead to conditions such as diabetes mellitus.
p.4
Genetic Variation and Mutation
What is a point mutation?
A mutation that involves a change in a single nucleotide base pair.
p.62
Detection of Genetic Variations
What is the effect of oxygen binding on HisF8?
HisF8 moves upward and closer to the porphyrin plane.
p.55
Pharmacogenetics and Drug Response
What is a potential risk associated with prolonged exposure to isoniazid?
Greater risk for liver damage and side effects.
p.8
Hardy-Weinberg Principle
What is the significance of the equation p² + 2pq + q²?
It represents the expected frequencies of the genotypes in a population.
p.5
Genetic Variation and Mutation
What is the frequency of induced mutations per cell per day?
Between 10^3 and 10^6 per cell per day.
p.5
Genetic Variation and Mutation
What types of radiation can cause induced mutations?
Ionizing radiation (like X-rays) and nonionizing radiation (like UV light).
p.6
Genetic Variation and Mutation
What are silent mutations?
Mutations that do not change the amino acid sequence of a protein.
p.99
Diabetes Mellitus Types and Management
What is the function of Alpha-glucosidase Inhibitors?
Help the body digest sugar more slowly.
p.2
Common Genetic Disorders
How are cancer and other diseases related to genetic variation?
Genetic mutations can lead to the development of cancer and other diseases.
p.99
Diabetes Mellitus Types and Management
What is the role of DPP-4 Inhibitors?
Help the body release more insulin.
p.99
Diabetes Mellitus Types and Management
What do Sulfonylureas do?
Help the body make more insulin.
p.99
Diabetes Mellitus Types and Management
What is the function of Biguanides (Metformin)?
Stop the liver from making too much sugar (glucose).
p.31
Inborn Errors of Metabolism
What happens when there is an abnormality in a gene related to metabolism?
It leads to defective or insufficient enzymatic activity in the metabolic pathway.
p.77
Common Genetic Disorders
What characterizes Beta-Thalassemia minor?
Usually asymptomatic with mild anemia.
p.90
Diabetes Mellitus Types and Management
What cholesterol levels can increase the risk for Type 2 diabetes?
Low HDL 'good' cholesterol and/or high triglycerides.
p.47
Inborn Errors of Metabolism
What is the effect of Lesch-Nyhan Syndrome on PRPP levels?
It causes an increased level of phosphorybosyl pyrophosphate (PRPP).
p.57
Pharmacogenetics and Drug Response
What is the role of ATP-sensitive potassium (K-ATP) channels in insulin secretion?
They control insulin secretion in beta cells.
p.72
Common Genetic Disorders
What is Thalassemia?
An abnormality of globin synthesis in alpha or beta genes.
p.79
Genetic Variation and Mutation
What is a chain termination mutation?
A nonsense mutation that causes premature termination of beta-globin mRNA translation.
p.77
Common Genetic Disorders
What are the symptoms of Beta-Thalassemia intermedia?
Moderate anemia and potential complications, but not as severe as Beta-Thalassemia major.
p.20
Detection of Genetic Variations
What happens after running the gel in Southern blotting?
The DNA is transferred to a membrane.
p.44
Inborn Errors of Metabolism
What are the genitalia characteristics in individuals with Congenital Adrenal Hyperplasia?
Ambiguous and undeveloped genitalia in males and females.
p.19
Detection of Genetic Variations
What role does temperature play in nucleic acid hybridization?
Temperature affects the stability of the hybrid; higher temperatures can lead to denaturation of the strands.
p.74
Common Genetic Disorders
What is the visual representation associated with hydrops fetalis?
Picture of a fetus with hydrops fetalis.
p.67
Genetic Variation and Mutation
What happens in a chain termination mutation?
A mutation in the termination codon results in an elongated globin; e.g., Hb Constant Spring.
p.99
Diabetes Mellitus Types and Management
What do Meglitinides do?
Help the body make more insulin around mealtime.
p.5
Genetic Variation and Mutation
What are mutation hotspots?
Regions in the genome that are more likely to mutate, such as CpG sites.
p.2
Types of Genetic Inheritance
What is genetic inheritance?
The process by which genetic information is passed from parents to offspring.
p.83
Multifactorial Inheritance and Complex Diseases
What are conditions caused by many contributing factors called?
Complex or multifactorial disorders.
p.55
Pharmacogenetics and Drug Response
What causes differences in N-Acetyltransferase activity among populations?
Polymorphic mutation in the NAT2 gene.
p.9
Types of Genetic Inheritance
How can dominant homozygotes (AA) and heterozygotes (Aa) be distinguished?
They are indistinguishable from each other.
p.57
Pharmacogenetics and Drug Response
What triggers the activation of insulin secretion in the presence of glucose?
Closure of K-ATP channels.
p.8
Hardy-Weinberg Principle
What is the equation that represents the frequencies of alleles in a population?
p + q = 1; p² + 2pq + q² = (p + q)² = 1.
p.94
Common Genetic Disorders
What rare form of diabetes is associated with a mutation in the ABCC8 gene?
Autosomal dominant diabetes.
p.68
Types of Genetic Inheritance
What type of inheritance is associated with Sickle Cell Disease?
Autosomal recessive inheritance.
p.25
Detection of Genetic Variations
What are the components used in Sanger sequencing?
Template DNA, primers, DNA polymerase, and dideoxynucleotides.
p.4
Genetic Variation and Mutation
What is the potential outcome of a beneficial mutation?
It can provide an advantage in survival or reproduction.
p.68
Common Genetic Disorders
In which geographical area is Sickle Cell Disease prevalent?
In areas where malaria is endemic.
p.4
Genetic Variation and Mutation
What is a harmful mutation?
A mutation that negatively impacts an organism's function or health.
p.68
Genetic Variation and Mutation
What is the specific genetic mutation that causes Sickle Cell Disease?
Single base substitution G A G -> G T G.
p.2
Genetic Variation and Mutation
How does immigration affect genetic variation?
It introduces new genetic material into a population.
p.2
Common Genetic Disorders
What are somatic cells?
Any cells in the body that are not germline cells.
p.9
Types of Genetic Inheritance
What type of genetic disease is cystic fibrosis?
An autosomal recessive genetic disease.
p.20
Detection of Genetic Variations
What is the role of a labeled probe in Southern blotting?
To hybridize with the target DNA for detection.
p.50
Inborn Errors of Metabolism
What are the main symptoms associated with disorders affecting mitochondrial function?
Neurodegeneration, ataxia, and retinitis pigmentosa.
p.19
Detection of Genetic Variations
What is the significance of nucleic acid hybridization in genetics?
It is used for detecting specific sequences of nucleic acids, which can help identify genetic variations.
p.8
Hardy-Weinberg Principle
What are the ideal conditions for a population according to the Hardy-Weinberg principle?
Large enough, random mating, no new mutation, no selection toward any particular genotype.
p.28
Detection of Genetic Variations
What type of samples can be analyzed using DNA microarrays?
Samples of DNA, RNA, or cDNA.
p.62
Detection of Genetic Variations
What happens to iron in hemoglobin in the absence of oxygen?
Iron lies 0.4 Angstroms outside the plane of the porphyrin ring.
p.37
Inborn Errors of Metabolism
What is an example of a specific mutation prevalent in certain populations for PKU?
Alternative splicing from a point mutation on exon 12.
p.56
Pharmacogenetics and Drug Response
What is a significant side effect of Succinylcholine?
Relaxation of respiratory muscles can cause apnea (cessation of breathing).
p.72
Common Genetic Disorders
Which scenario is more hemolytic in Thalassemia?
Missing beta chain leading to excess alpha chain.
p.8
Hardy-Weinberg Principle
What do p and q represent in the context of genetic variation?
The frequencies of alleles A and a, respectively.
p.94
Inborn Errors of Metabolism
What condition was caused by the E1506K mutation in the SUR1 protein?
Congenital hyperinsulinemia.
p.33
Inborn Errors of Metabolism
What are glycogen storage diseases?
Diseases that affect the body's ability to store and use glycogen.
p.56
Pharmacogenetics and Drug Response
What effect does the CHE1 gene mutation have on Succinylcholine?
It prolongs the effect of choline.
p.25
Detection of Genetic Variations
What is the key principle behind Sanger sequencing?
Incorporation of chain-terminating dideoxynucleotides during DNA synthesis.
p.5
Genetic Variation and Mutation
What is the frequency of spontaneous mutations per cell division?
Less than 10^-10 per cell division, or less than 1 per human genome.
p.68
Common Genetic Disorders
What is the primary consequence of Sickle Cell Disease?
Severe hereditary hemolytic anemia.
p.62
Detection of Genetic Variations
What is the term for the change in conformation of hemoglobin due to oxygen binding?
Allosteric interaction leading to cooperative binding.
p.6
Genetic Variation and Mutation
What are nonsense mutations?
Mutations that create a premature stop codon in the protein sequence.
p.68
Genetic Variation and Mutation
What amino acid change occurs in the beta-globin chain due to Sickle Cell Disease?
Glutamate is replaced by Valine at the 6th position.
p.74
Common Genetic Disorders
What is a notable characteristic of Hb Barts?
It has a high affinity for oxygen and does not release it.
p.93
Diabetes Mellitus Types and Management
What family of proteins does PPAR γ belong to?
Nuclear hormone receptor super-family of transcription factors.
p.6
Genetic Variation and Mutation
What are frameshift mutations?
Mutations that shift the reading frame of the genetic code, often caused by insertions or deletions.
p.2
Genetic Variation and Mutation
What is mutation?
A change in the DNA sequence that can lead to genetic variation.
p.6
Genetic Variation and Mutation
What are copy number variations (CNVs)?
Mutations that involve duplications or deletions of large segments of DNA.
p.5
Genetic Variation and Mutation
What factors contribute to gene errors?
Environmental factors and spontaneous or induced mutations.
p.49
Inborn Errors of Metabolism
What is the most common mitochondrial disorder?
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).
p.37
Inborn Errors of Metabolism
What does the term 'heterogeneity' refer to in the context of PKU?
The presence of multiple mutations causing the same disorder.
p.2
Genetic Variation and Mutation
What is genetic variation?
Differences in DNA sequences among individuals in a population.
p.6
Genetic Variation and Mutation
What are missense mutations?
Mutations that result in a different amino acid being incorporated into a protein.
p.93
Diabetes Mellitus Types and Management
How do variants of PPAR γ influence health?
They influence the risk of developing obesity and Type 2 diabetes.
p.93
Diabetes Mellitus Types and Management
What effect do drugs that activate PPAR γ have on diabetics?
They increase sensitivity to insulin and lower blood sugar levels.
p.99
Diabetes Mellitus Types and Management
What are the brand names for Sulfonylureas?
Amaryl, Diabeta, and Glynase.
p.56
Pharmacogenetics and Drug Response
What type of genetic mutation is associated with high sensitivity to Succinylcholine?
Autosomal recessive mutation of the CHE1 gene.
p.2
Genetic Variation and Mutation
What is recombination?
The process by which genetic material is physically mixed during reproduction.
p.62
Detection of Genetic Variations
What is cooperative binding in hemoglobin?
The binding of one oxygen molecule increases the affinity for additional oxygen molecules.
p.2
Genetic Variation and Mutation
What is epigenetics?
The study of changes in gene expression that do not involve changes to the underlying DNA sequence.
p.99
Diabetes Mellitus Types and Management
What do SGLT2 Inhibitors do?
Affect the kidney to increase the amount of sugar that goes out in the urine.
