p.48
Fluorescence In-Situ Hybridization (FISH)
How does separate denaturation benefit morphology?
It preserves morphology better.
p.5
Conventional Cytogenetics
What is the primary method used in conventional cytogenetics?
Direct examination of chromosomes by light microscopy.
p.22
Karyotyping and Nomenclature
What is an ideogram?
A diagrammatic representation of human chromosome bands.
p.10
Karyotyping and Nomenclature
What is a karyotype?
A visual representation of an individual's chromosomes.
p.22
Karyotyping and Nomenclature
What does an ideogram represent?
The banding patterns of human chromosomes.
p.69
Karyotyping and Nomenclature
What is one advantage of 24-colour karyotyping?
It permits the identification of subtelomeric translocations.
p.14
Cytogenetic Techniques and Methodologies
What is the purpose of the Block & Release technique in cell cycle studies?
To synchronize cells at a specific stage of the cell cycle, such as metaphase.
p.80
Emerging Technologies in Cytogenetics
What is the DOI for the study on optical genome map alignment?
https://doi.org/10.1016/B978-0-12-823579-9.00022-9
p.81
Emerging Technologies in Cytogenetics
What is the purpose of the Bionano Access software?
Data visualization in cytogenomics.
p.21
Karyotyping and Nomenclature
What are the structural components of metaphase chromosomes?
Short (p) and long (q) arms.
p.67
Karyotyping and Nomenclature
What is 24-colour karyotyping based on?
Combinational FISH using chromosome painting probes.
p.79
Cytogenetic Techniques and Methodologies
What type of variations are the pipelines designed to detect?
Structural variations (SV).
p.6
Conventional Cytogenetics
Does conventional cytogenetic analysis require prior clinicopathological information?
No, it does not require prior clinicopathological information.
p.27
Cytogenetic Techniques and Methodologies
What is the function of a metaphase finder?
To locate metaphase chromosomes for analysis.
p.1
Cytogenetic Techniques and Methodologies
What are the two main branches of cytogenetics discussed in PATH6100?
Conventional cytogenetics and molecular cytogenetics.
p.17
Applications of Cytogenetic Analysis
What is the primary use of the number 17?
Mainly used in various contexts.
p.21
Karyotyping and Nomenclature
How are the short (p) and long (q) arms of chromosomes described?
They are equal and distinct.
p.31
Karyotyping and Nomenclature
What is a mouse karyotype?
A complete set of chromosomes in a mouse, typically used for genetic analysis.
p.55
Molecular Cytogenetics
What is BCR::ABL1?
A dual colour dual fusion translocation probe.
p.31
Karyotyping and Nomenclature
How many chromosomes are typically found in a mouse karyotype?
A mouse has 40 chromosomes.
p.43
Cytogenetic Techniques and Methodologies
What can whole chromosome probes identify?
Chromosomal translocations and marker chromosomes.
p.80
Emerging Technologies in Cytogenetics
What is the purpose of optical genome map alignment?
To identify distinct variant classes.
p.48
Fluorescence In-Situ Hybridization (FISH)
What is the purpose of denaturation in hybridization?
To separate the FISH probe and sample.
p.79
Cytogenetic Techniques and Methodologies
What is the significance of map alignment in the context of the pipelines?
It is used for calling structural variations automatically.
p.33
Genetic Markers in Cancer
What is the significance of the 9p, 13, and 17 regions in esophageal cancer?
These regions contain most tumor suppressor genes.
p.78
Emerging Technologies in Cytogenetics
What is the focus of next-generation cytogenomics?
High-resolution structural variation detection.
p.18
Karyotyping and Nomenclature
What does 'G-band' refer to in cytogenetics?
A pattern of light and dark bands on chromosomes when stained with Giemsa stain.
p.28
Karyotyping and Nomenclature
What does ISCN stand for?
International System for Human Cytogenomic Nomenclature.
p.42
Fluorescence In-Situ Hybridization (FISH)
What type of information is required for FISH analysis?
Clinicopathological and/or prior cytogenetics information.
p.69
Karyotyping and Nomenclature
How does 24-colour karyotyping help with unidentified chromosomes?
It allows for the identification of marker (unidentified) chromosomes.
p.46
Cytogenetic Techniques and Methodologies
What is a biotin-labeled probe used for?
To detect specific DNA or RNA sequences using biotin as a marker.
p.45
Molecular Cytogenetics
What are hybridization patterns used for in cytogenetics?
To analyze the presence and arrangement of specific DNA sequences.
p.62
Comparative Genomic Hybridization (CGH)
What specific regions can CGH help determine?
Homogeneously staining regions (hsr) and double minutes (dmin).
p.46
Cytogenetic Techniques and Methodologies
What is the function of biotinylated anti-avidin antibodies?
To amplify the signal in detection systems by binding to avidin.
p.72
Emerging Technologies in Cytogenetics
How does combinational coding differ from ratio coding?
Combinational coding focuses on unique outputs from multiple inputs, while ratio coding emphasizes the proportional relationships between components.
p.47
Fluorescence In-Situ Hybridization (FISH)
What is the selection criterion for the FISH probes?
Directly labelled FISH probes.
p.30
Genetic Markers in Cancer
Give an example of gene amplification in cancer.
HER2 amplification in breast cancer.
p.4
Genetic Markers in Cancer
What is the significance of genetic markers in monitoring treatment response?
They help detect minimal residual disease and assess how well the treatment is working.
p.10
Karyotyping and Nomenclature
What is the purpose of destroying spindle fibers in karyotype preparation?
To stop the cell cycle at metaphase.
p.22
Cytogenetic Techniques and Methodologies
Which staining methods are used to observe chromosome bands in an ideogram?
Q-, G-, and R-staining methods.
p.18
Cytogenetic Techniques and Methodologies
What is the significance of reversing to G-band?
It helps in identifying chromosomal abnormalities and structural changes.
p.23
Karyotyping and Nomenclature
What are the band levels/resolution values mentioned?
330, 400, 550, 700, 850, 500, 900.
p.62
Comparative Genomic Hybridization (CGH)
In what type of tumors is CGH more often used?
In the investigation of solid tumors.
p.42
Fluorescence In-Situ Hybridization (FISH)
What are the issues related to FISH analysis?
Sensitivity and specificity issues.
p.66
Applications of Cytogenetic Analysis
In which journal was the study by Wan et al (2012) published?
Chang Gung Medical Journal.
p.82
Cytogenetic Techniques and Methodologies
What is the title of the book edited by Wan TSK in 2017?
Cancer Cytogenetics: Methods and Protocols.
p.4
Genetic Markers in Cancer
What role do genetic markers play in cancer diagnosis?
They help in identifying the presence of cancerous cells.
p.63
Comparative Genomic Hybridization (CGH)
What is a limitation of Comparative Genomic Hybridization (CGH) regarding chromosomal changes?
CGH cannot detect chromosomal translocations or inversions.
p.15
Emerging Technologies in Cytogenetics
What are the benefits of using robotic harvesters?
Increased efficiency, reduced labor costs, and improved precision in harvesting.
p.4
Genetic Markers in Cancer
How are genetic markers used in cancer classification?
They assist in categorizing different types of cancer based on genetic profiles.
p.50
Fluorescence In-Situ Hybridization (FISH)
What type of samples can be analyzed using FISH?
Chromosomal preparations from various biological samples.
p.63
Comparative Genomic Hybridization (CGH)
How technically demanding is the CGH method?
It is a technically demanding method.
p.8
Applications of Cytogenetic Analysis
What is the role of cultured lymphocytes in cytogenetic studies?
They provide a model for analyzing cell division and chromosomal abnormalities.
p.81
Emerging Technologies in Cytogenetics
What type of interface does Bionano Access software use?
Graphical user interface.
p.17
Applications of Cytogenetic Analysis
In which countries is the number 17 predominantly used?
Used in France and half in mainland China.
p.43
Cytogenetic Techniques and Methodologies
What do unique sequence probes help detect?
Gene deletion, amplification, and gene fusion.
p.75
Cytogenetic Techniques and Methodologies
What is one advantage of multi-colour banding (mBAND)?
Rapid detection of intra- and/or inter-chromosomal rearrangements.
p.42
Fluorescence In-Situ Hybridization (FISH)
What is a limitation of FISH analysis regarding chromosomal information?
It does not provide a global view of chromosomal complement.
p.46
Cytogenetic Techniques and Methodologies
What is a direct-labeled probe?
A probe that is labeled directly with a detectable marker.
p.31
Applications of Cytogenetic Analysis
What is the significance of studying mouse karyotypes?
It helps in understanding genetic diseases and developmental biology.
p.71
Fluorescence In-Situ Hybridization (FISH)
What advantage does fluorescence labeling provide in cytogenetics?
It allows for the detection of chromosomal abnormalities and specific genetic markers.
p.61
Cytogenetic Techniques and Methodologies
What does the deletion notation 'del(11)(q22)' indicate?
A deletion on the long arm of chromosome 11 at band q22.
p.56
Genetic Markers in Cancer
What is BCR::ABL1?
A dual fusion gene resulting from a translocation.
p.41
Fluorescence In-Situ Hybridization (FISH)
What is one application of FISH in genomics?
Quantitative measurement of the size of specific genomic sequences.
p.8
Applications of Cytogenetic Analysis
What is the significance of studying the mitotic cycle in lymphocytes?
It helps in understanding cell division and its regulation in the immune system.
p.23
Cytogenetic Techniques and Methodologies
What is the significance of high-resolution banding?
It enhances the ability to identify chromosomal abnormalities.
p.27
Cytogenetic Techniques and Methodologies
What is the significance of using a metaphase finder in cytogenetics?
It enhances the accuracy of chromosome analysis.
p.52
Cytogenetic Techniques and Methodologies
What is the karyotype notation for atypical chronic myeloid leukemia (aCML) in this case?
46,XY,der(20)t(17;20)(q21;q13).
p.13
Cytogenetic Techniques and Methodologies
What is the purpose of synchronizing blood/marrow cells for cytogenetic analysis?
To increase the number of cells at prometaphase.
p.73
Emerging Technologies in Cytogenetics
What is the significance of Prof TWan 73?
The context or details about Prof TWan 73 are not provided.
p.71
Fluorescence In-Situ Hybridization (FISH)
What is the purpose of fluorescence labeling in human chromosomes?
To visualize and identify specific chromosomes or regions within chromosomes.
p.51
Fluorescence In-Situ Hybridization (FISH)
What is the purpose of whole chromosome probes in FISH?
Characterization of an unidentified chromosome.
p.16
Cytogenetic Techniques and Methodologies
What is a robotic metaphase spreader used for?
To automate the process of spreading chromosomes during cytogenetic analysis.
p.6
Conventional Cytogenetics
What can conventional cytogenetic analysis help identify?
New chromosomal aberrations.
p.72
Emerging Technologies in Cytogenetics
What is ratio coding?
A coding technique that represents data based on the ratio of different components.
p.42
Fluorescence In-Situ Hybridization (FISH)
What is a technical limitation of FISH analysis?
Instrumentation requirements.
p.46
Cytogenetic Techniques and Methodologies
What is a digoxigenin-labeled probe?
A probe labeled with digoxigenin for the detection of nucleic acids.
p.53
Fluorescence In-Situ Hybridization (FISH)
What is the purpose of using FISH in the context of bone marrow transplantation?
To detect chimerism in sex mismatched patients.
p.57
Genetic Markers in Cancer
What is indicated by MLL deletion?
A loss of genetic material associated with certain leukemias.
p.15
Emerging Technologies in Cytogenetics
How do robotic harvesters contribute to agriculture?
They help in optimizing crop yield and minimizing waste during the harvesting process.
p.40
Fluorescence In-Situ Hybridization (FISH)
What can FISH identify regarding viral infections?
Viral integration sites in chromosomes.
p.3
Applications of Cytogenetic Analysis
What does Morphology refer to in pathology?
The study of the form and structure of organisms and their specific structural features.
p.41
Fluorescence In-Situ Hybridization (FISH)
What does FISH help detect in cancer patients?
Early relapse or minimal residual disease.
p.29
Karyotyping and Nomenclature
What is the chromosome notation for a male with a translocation between chromosomes 9 and 22?
46,XY,t(9;22)(q34;q11.2).
p.70
Karyotyping and Nomenclature
What types of chromosomal changes cannot be detected by 24-colour karyotyping?
Intrachromosomal deletions, duplications, or inversions.
p.36
Fluorescence In-Situ Hybridization (FISH)
What does FISH stand for in molecular cytogenetics?
Fluorescence In-Situ Hybridization.
p.36
Fluorescence In-Situ Hybridization (FISH)
What is the primary use of FISH in molecular cytogenetics?
To detect changes in human chromosomes using DNA probes.
p.62
Comparative Genomic Hybridization (CGH)
What is one advantage of Comparative Genomic Hybridization (CGH)?
It bypasses the need for dividing cells.
p.51
Fluorescence In-Situ Hybridization (FISH)
What do centromeric probes detect in FISH?
Gain or loss of whole chromosomes.
p.75
Cytogenetic Techniques and Methodologies
What unique feature does multi-colour banding (mBAND) provide for chromosomes?
A unique color bar code on every chromosome.
p.50
Fluorescence In-Situ Hybridization (FISH)
What does FISH stand for in cytogenetics?
Fluorescence In-Situ Hybridization.
p.51
Fluorescence In-Situ Hybridization (FISH)
What do dual color break-apart probes identify?
Translocation with unknown partners.
p.69
Karyotyping and Nomenclature
What does 24-colour karyotyping allow for in terms of chromosomal breakpoints?
It allows for refinement of chromosomal breakpoints in some cases.
p.14
Cytogenetic Techniques and Methodologies
What is the significance of studying cells in metaphase?
Metaphase is crucial for analyzing chromosome alignment and structure.
p.39
Fluorescence In-Situ Hybridization (FISH)
What types of chromosomal abnormalities can FISH detect?
Numerical and structural chromosomal abnormalities.
p.50
Fluorescence In-Situ Hybridization (FISH)
How does the FISH technique visualize DNA?
By using fluorescent probes that bind to specific DNA sequences.
p.63
Comparative Genomic Hybridization (CGH)
What type of computer systems may be required for CGH analysis?
Dedicated and accurate computer systems.
p.46
Cytogenetic Techniques and Methodologies
What is the sequence of antibodies used in a detection system involving digoxigenin?
Mouse anti-digoxigenin antibody followed by rabbit anti-mouse antibody and sheep anti-rabbit antibody.
p.50
Fluorescence In-Situ Hybridization (FISH)
What advantage does FISH provide in genetic analysis?
It allows for the visualization of genetic abnormalities in real-time.
p.41
Fluorescence In-Situ Hybridization (FISH)
How does FISH assist after bone marrow transplantation?
By determining the origin of marrow cells.
p.40
Fluorescence In-Situ Hybridization (FISH)
What is a gene mapping application of FISH?
Mapping genes to appropriate chromosome bands.
p.4
Genetic Markers in Cancer
What aspect of cancer does pathogenesis refer to?
The development and progression of cancer at the molecular level.
p.38
Fluorescence In-Situ Hybridization (FISH)
In which publication was the study on FISH and gene amplification in breast cancer published?
Annals of Laboratory Medicine, 2014.
p.49
Fluorescence In-Situ Hybridization (FISH)
How can stringency be increased during washing?
By reducing salt concentrations, increasing temperature, increasing washing time, and increasing formamide concentration.
p.79
Cytogenetic Techniques and Methodologies
What is the main focus of the pipelines mentioned in the document?
Automatic structural variation (SV) calling by map alignment.
p.43
Cytogenetic Techniques and Methodologies
What is the purpose of determining the number of chromosomes?
To assess chromosomal abnormalities.
p.6
Conventional Cytogenetics
What is one advantage of conventional cytogenetic analysis?
It provides an overall picture of chromosomal aberrations.
p.75
Cytogenetic Techniques and Methodologies
How does multi-colour banding (mBAND) assist in karyotyping?
It allows for automated karyotyping of color banded metaphases.
p.67
Karyotyping and Nomenclature
What does 24-colour karyotyping allow for?
Simultaneous visualization of all chromosomes in a metaphase spread in different colors.
p.71
Fluorescence In-Situ Hybridization (FISH)
What technique is commonly used for fluorescence labeling of chromosomes?
Fluorescence In-Situ Hybridization (FISH).
p.72
Emerging Technologies in Cytogenetics
What is combinational coding?
A method of encoding where multiple inputs are combined to produce a unique output.
p.66
Molecular Cytogenetics
What technique is discussed in Wan et al (2012) for molecular karyotyping?
Array Comparative Genomic Hybridization (Array CGH).
p.76
Cytogenetic Techniques and Methodologies
What does multi-colour banding (mBAND) refer to?
A cytogenetic technique that uses multiple fluorescent dyes to visualize chromosomal bands.
p.48
Fluorescence In-Situ Hybridization (FISH)
What is the advantage of co-denaturation of FISH probe and sample?
It reduces the number of practical steps.
p.27
Karyotyping and Nomenclature
What role does a karyotyper play in cytogenetics?
To analyze and classify chromosomes in a karyotype.
p.14
Cytogenetic Techniques and Methodologies
What does 'arrest' refer to in the context of the cell cycle?
The temporary halting of cell cycle progression at a specific phase.
p.31
Conventional Cytogenetics
Who is Prof TWan?
A professor associated with the study of mouse karyotypes.
p.16
Emerging Technologies in Cytogenetics
How does a robotic metaphase spreader improve cytogenetic analysis?
By increasing efficiency and consistency in chromosome preparation.
p.30
Genetic Markers in Cancer
What is a Homogeneously Stained Region (HSR)?
A region on a chromosome that appears uniformly stained, indicating gene amplification.
p.23
Applications of Cytogenetic Analysis
Who are the editors of the ISCN 2016 reference?
McGowan-Jordan J, Simons A, Schmid M.
p.50
Fluorescence In-Situ Hybridization (FISH)
What is the primary use of the FISH system?
To detect and localize specific DNA sequences in chromosomes.
p.77
Cytogenetic Techniques and Methodologies
In which journal was the study on mBAND published?
Chang Gung Medical Journal.
p.30
Genetic Markers in Cancer
What is gene amplification?
The process by which specific genes are replicated multiple times, leading to increased expression.
p.20
Karyotyping and Nomenclature
What does C-banding highlight in human karyotyping?
Constitutive heterochromatin.
p.45
Molecular Cytogenetics
What type of probe is a single-copy plasmid?
A probe that targets unique DNA sequences.
p.37
Fluorescence In-Situ Hybridization (FISH)
What is a Direct Fluorescent-Labeled Probe used for?
It is used in Fluorescence In-Situ Hybridization (FISH) to detect specific DNA sequences.
p.18
Cytogenetic Techniques and Methodologies
What is the process of reversing to G-band?
It involves staining chromosomes to visualize their banding patterns.
p.8
Cytogenetic Techniques and Methodologies
What is the mitotic cycle?
The series of phases that a cell goes through to divide and replicate.
p.51
Fluorescence In-Situ Hybridization (FISH)
What is the function of dual color translocation probes?
Identifying translocation with known partners.
p.6
Conventional Cytogenetics
What information does conventional cytogenetic analysis provide regarding clonal evolution?
It gives information on clonal evolution.
p.26
Karyotyping and Nomenclature
What is karyotyping?
A laboratory technique used to visualize chromosomes in a cell.
p.11
Cytogenetic Techniques and Methodologies
What type of cells are typically cultured for chromosome analysis?
Lymphocytes or other dividing cells.
p.61
Applications of Cytogenetic Analysis
What is the significance of the karyotype in Myelodysplastic syndrome?
It helps in diagnosing and understanding the genetic abnormalities associated with MDS.
p.40
Fluorescence In-Situ Hybridization (FISH)
How does FISH help in detecting chromosomal abnormalities?
By detecting cryptic translocations.
p.41
Fluorescence In-Situ Hybridization (FISH)
How can FISH be used in therapy monitoring?
To monitor the effects of therapy.
p.46
Cytogenetic Techniques and Methodologies
What is the purpose of using an indirect-labeled probe?
To amplify the signal for better detection.
p.29
Karyotyping and Nomenclature
What does ISCN stand for?
International System for Human Cytogenomic Nomenclature.
p.11
Cytogenetic Techniques and Methodologies
What is the general process for preparing cells for chromosome analysis?
Culture cells, treat with COLCEMID, harvest, and stain chromosomes.
p.70
Karyotyping and Nomenclature
What is a limitation regarding the resolution of 24-colour karyotyping?
The resolution of the painting probes.
p.20
Cytogenetic Techniques and Methodologies
What is the reference for the methods discussed in the context of karyotyping?
Wan et al (2017) Methods Mol Biol;1541: 59-66.
p.60
Fluorescence In-Situ Hybridization (FISH)
What does the term 'reversed DAPI' imply?
A specific imaging technique involving DAPI.
p.41
Fluorescence In-Situ Hybridization (FISH)
What is the purpose of using XY FISH?
To determine if the transplant is successful.
p.82
Cytogenetic Techniques and Methodologies
What methodology is revisited in Wan TSK's 2014 article?
Cancer Cytogenetics methodology.
p.38
Genetic Markers in Cancer
What does Her2 amplification indicate in breast cancer?
It is associated with aggressive tumor behavior.
p.49
Fluorescence In-Situ Hybridization (FISH)
What is a consequence of insufficient washing after hybridization?
Increased background noise.
p.25
Karyotyping and Nomenclature
What does 'del(7q)' represent?
Deletion of the long arm of chromosome 7.
p.25
Karyotyping and Nomenclature
What does 'isochromosome' mean?
Loss of the short arm and duplication of the long arm of a chromosome.
p.28
Karyotyping and Nomenclature
What is the primary purpose of ISCN?
To provide a standardized nomenclature for human cytogenomic data.
p.30
Genetic Markers in Cancer
What does 'double minutes' (dmin) refer to in genetics?
Small, extrachromosomal DNA fragments that can carry amplified genes.
p.55
Molecular Cytogenetics
What type of probe is the BCR::ABL1?
Dual colour dual fusion translocation probe.
p.53
Fluorescence In-Situ Hybridization (FISH)
What does FISH stand for?
Fluorescence In-Situ Hybridization.
p.7
Limitations and Challenges in Cytogenetics
What is a major limitation of conventional cytogenetic analysis regarding cell type?
It requires living cells.
p.82
Fluorescence In-Situ Hybridization (FISH)
What impact does fluorescence in situ hybridization have according to Wan TSK and Ma ESK (2004)?
It affects the detection of genetic aberrations in hematological oncology.
p.58
Emerging Technologies in Cytogenetics
What does FISH stand for in cytogenetics?
Fluorescence In-Situ Hybridization.
p.7
Limitations and Challenges in Cytogenetics
What is a limitation related to the number of metaphases in conventional cytogenetic analysis?
It is limited in the number of metaphases that can be analyzed.
p.9
Conventional Cytogenetics
What is PHA used for in conventional cytogenetics?
PHA (phytohemagglutinin) is used to stimulate culture for T-lymphocytes.
p.74
Genetic Markers in Cancer
What does c-MYC represent in genetic studies?
c-MYC is an oncogene that plays a role in cell cycle progression, apoptosis, and cellular transformation.
p.15
Emerging Technologies in Cytogenetics
What types of crops can robotic harvesters be used for?
Various crops, including fruits, vegetables, and grains.
p.57
Fluorescence In-Situ Hybridization (FISH)
What is the purpose of a Dual Color Break Apart DNA FISH probe?
To identify unknown gene partners involved in MLL rearrangements.
p.64
Cytogenetic Techniques and Methodologies
What is the purpose of Nick translation in a genomic array experiment?
To label DNA for hybridization.
p.74
Applications of Cytogenetic Analysis
What does the number 74 refer to in this context?
It may refer to a specific identifier or code related to the study or analysis, though details are unclear.
p.3
Molecular Cytogenetics
What is Molecular Genetics?
The field of biology that studies the structure and function of genes at a molecular level.
p.13
Cytogenetic Techniques and Methodologies
What happens to cells blocked in S after the block is released?
They proceed in a wave into G2 and then mitosis.
p.64
Cytogenetic Techniques and Methodologies
What are chromosomal fragments used for in a genomic array experiment?
To analyze genetic variations.
p.25
Karyotyping and Nomenclature
What is indicated by 'ins(5q)'?
Insertion in the long arm of chromosome 5.
p.2
Emerging Technologies in Cytogenetics
What is multi-colour banding (mBAND)?
A technique that allows visualization of multiple chromosomal bands using different colors.
p.11
Cytogenetic Techniques and Methodologies
What is the purpose of using COLCEMID in chromosome analysis?
COLCEMID is used to arrest cells in metaphase for chromosome analysis.
p.46
Cytogenetic Techniques and Methodologies
What is the role of avidin in detection systems?
Avidin binds strongly to biotin, facilitating the detection of biotin-labeled probes.
p.39
Fluorescence In-Situ Hybridization (FISH)
What does FISH detect in non-dividing cells?
Chromosomal abnormalities.
p.72
Emerging Technologies in Cytogenetics
What is the purpose of schematic representations in coding?
To visually illustrate the relationships and processes involved in coding methods.
p.74
Fluorescence In-Situ Hybridization (FISH)
What does WCP8 (green) refer to in cytogenetics?
It is a type of whole chromosome probe used for identifying specific chromosomes.
p.16
Cytogenetic Techniques and Methodologies
What is the significance of chromosome spreading in cytogenetics?
It allows for the visualization and analysis of chromosomes.
p.11
Cytogenetic Techniques and Methodologies
What is the significance of harvesting cells at the metaphase stage?
Metaphase is when chromosomes are most condensed and visible.
p.74
Fluorescence In-Situ Hybridization (FISH)
What is the significance of LSI in cytogenetics?
LSI stands for 'locus-specific identifier', used to detect specific gene locations.
p.39
Fluorescence In-Situ Hybridization (FISH)
What specific genetic alterations can FISH identify?
Gene deletion and amplification.
p.45
Molecular Cytogenetics
What is a cosmid probe?
A hybrid vector used to clone DNA fragments, typically larger than plasmids.
p.60
Fluorescence In-Situ Hybridization (FISH)
What does DAPI stand for?
4',6-Diamidino-2-phenylindole.
p.52
Cytogenetic Techniques and Methodologies
What is the significance of the der(20) in the karyotype?
It indicates a derivative chromosome 20 resulting from a translocation.
p.58
Karyotyping and Nomenclature
What is 24-colour karyotyping?
A technique that uses multiple colors to visualize chromosomes in a single analysis.
p.70
Karyotyping and Nomenclature
What does 24-colour karyotyping require for reference?
It requires reference back to the G-banded karyotype.
p.59
Comparative Genomic Hybridization (CGH)
What is the significance of using pooled reference DNA from at least 5 people in CGH?
To account for human DNA variation.
p.9
Cytogenetic Techniques and Methodologies
Why is synchronization important in cytogenetic analysis?
It leads to elongated chromosomes, which allows for better banding.
p.49
Fluorescence In-Situ Hybridization (FISH)
What happens if the temperature during washing is too high?
It may wash away the probes and denature the target and probes.
p.2
Karyotyping and Nomenclature
What is the purpose of karyotyping?
To analyze the number and structure of chromosomes.
p.49
Fluorescence In-Situ Hybridization (FISH)
What is formamide and why is it significant in washing solutions?
Formamide is a toxic organic solvent used to increase stringency.
p.2
Emerging Technologies in Cytogenetics
What is 24-colour karyotyping?
A technique that uses 24 different fluorescent dyes to analyze chromosomes.
p.25
Cytogenetic Techniques and Methodologies
What is the significance of 'C-band' in karyotyping?
It is used for the enlargement of heterochromatin.
p.67
Fluorescence In-Situ Hybridization (FISH)
What is a key capability of 24-colour karyotyping?
Evaluating structural anomalies involving all chromosomes in one FISH experiment.
p.23
Cytogenetic Techniques and Methodologies
What is an advantage of high resolution in cytogenetics?
It allows for the detection of micro-deletions.
p.62
Comparative Genomic Hybridization (CGH)
What does CGH provide an overview of?
Gains and losses of whole chromosomes or regions.
p.15
Emerging Technologies in Cytogenetics
What is a robotic harvester?
A machine designed to automate the process of harvesting crops.
p.40
Fluorescence In-Situ Hybridization (FISH)
What is one application of FISH in cancer analysis?
Analysis of translocation or fused oncogenes.
p.55
Molecular Cytogenetics
What is the significance of the BCR::ABL1 probe?
It is used in the detection of specific chromosomal translocations.
p.26
Cytogenetic Techniques and Methodologies
What is the purpose of image processing in karyotyping?
To enhance and analyze chromosome images for accurate identification and classification.
p.3
Applications of Cytogenetic Analysis
What is the focus of Diagnostic Pathology?
The study of disease through the examination of tissues and cells.
p.8
Cytogenetic Techniques and Methodologies
What are the main phases of the mitotic cycle?
Prophase, Metaphase, Anaphase, and Telophase.
p.82
Molecular Cytogenetics
What is the focus of Wan TSK's 2010 article?
Molecular cytogenetics: techniques, developments, and application.
p.59
Comparative Genomic Hybridization (CGH)
What is the first step in a Comparative Genomic Hybridization (CGH) experiment?
Reference DNA preparation.
p.7
Limitations and Challenges in Cytogenetics
What is a resolution limitation in conventional cytogenetic analysis?
The resolution of chromosome bands is limited.
p.4
Genetic Markers in Cancer
How do genetic markers contribute to cancer prognosis?
They provide information about the likely course and outcome of the disease.
p.49
Fluorescence In-Situ Hybridization (FISH)
What solution is commonly used for washing slides in post-hybridization?
Standard saline citrate (SSC).
p.68
Karyotyping and Nomenclature
What is the purpose of image acquisition in a karyotyping experiment?
To capture images of the metaphase chromosomes.
p.3
Molecular Cytogenetics
What are Cell Markers?
Molecules found on the surface of cells that can be used to identify and classify different cell types.
p.26
Applications of Cytogenetic Analysis
What is the significance of karyotyping in genetics?
It helps in identifying chromosomal abnormalities and genetic disorders.
p.60
Applications of Cytogenetic Analysis
What is the significance of the number 60 in the context?
It may refer to a specific measurement or result in the test.
p.70
Cytogenetic Techniques and Methodologies
What additional techniques are needed alongside 24-colour karyotyping?
A combination of FISH approaches.
p.13
Cytogenetic Techniques and Methodologies
What is the effect of blocking the cell cycle with FdU and Ur?
Cells are unable to complete replication.
p.64
Cytogenetic Techniques and Methodologies
What is the purpose of array analysis in a genomic array experiment?
To interpret the results of the hybridization.
p.70
Karyotyping and Nomenclature
What is a major limitation of 24-colour karyotyping?
It relies on metaphase analysis.
p.20
Limitations and Challenges in Cytogenetics
What is a limitation of R-banded karyotypes?
Difficult to analyze telomere ends due to darkness.
p.57
Genetic Markers in Cancer
What does MLL rearrangement signify?
A structural alteration of the MLL gene, often linked to leukemia.
p.40
Fluorescence In-Situ Hybridization (FISH)
How does FISH assist in understanding neoplastic cells?
By defining lineage involvement of neoplastic cells.
p.11
Cytogenetic Techniques and Methodologies
What is the role of culture media in chromosome analysis?
Culture media provide nutrients and environment for cell growth.
p.15
Emerging Technologies in Cytogenetics
What technology is often integrated into robotic harvesters?
Sensors and artificial intelligence for better decision-making.
p.57
Genetic Markers in Cancer
What does a normal MLL indicate?
No genetic alterations in the MLL gene.
p.3
Conventional Cytogenetics
What does Conventional Cytogenetics study?
The structure and function of chromosomes.
p.38
Applications of Cytogenetic Analysis
What is the role of FISH in cancer diagnosis?
To detect specific gene amplifications and fusions.
p.38
Fluorescence In-Situ Hybridization (FISH)
What does FISH stand for?
Fluorescence In-Situ Hybridization.
p.58
Comparative Genomic Hybridization (CGH)
What is comparative genomic hybridization (CGH)?
A technique used to analyze genomic differences between normal and abnormal cells.
p.49
Fluorescence In-Situ Hybridization (FISH)
What is the purpose of post-hybridization washing?
To remove unbound probes.
p.56
Applications of Cytogenetic Analysis
What is the significance of the BCR::ABL1 probe?
It is used in the diagnosis and monitoring of certain types of leukemia.
p.46
Applications of Cytogenetic Analysis
What is the significance of the expiration date in clinical use?
To ensure the reliability and effectiveness of the detection system.
p.47
Fluorescence In-Situ Hybridization (FISH)
What two factors are important in FISH analysis?
Fluorescence intensity and fluorescence background.
p.45
Fluorescence In-Situ Hybridization (FISH)
What is a whole-chromosome paint probe?
A pool of many probes that labels an entire chromosome.
p.52
Fluorescence In-Situ Hybridization (FISH)
What technique can be used for the characterization of the unidentified marker chromosome?
FISH (Fluorescence In-Situ Hybridization).
p.70
Comparative Genomic Hybridization (CGH)
What can be determined by Comparative Genomic Hybridization (CGH)?
Certain chromosomal abnormalities.
p.25
Karyotyping and Nomenclature
What does 'der(1)t(1;1)' indicate?
Derivation of chromosome 1 with a translocation involving itself.
p.37
Fluorescence In-Situ Hybridization (FISH)
What does the sequence 'A A G G G G C C T T T T C C C C G G A A T T A A' represent?
It represents a specific DNA sequence in a FISH probe.
p.9
Cytogenetic Techniques and Methodologies
What is the purpose of direct harvest in cytogenetic analysis?
To obtain cells for analysis from prenatal samples or cancer tissues.
p.58
Comparative Genomic Hybridization (CGH)
What is the significance of normal metaphase in CGH?
It serves as a reference point for comparing genomic alterations.
p.74
Applications of Cytogenetic Analysis
Who is Prof TWan?
A professional or researcher associated with cytogenetics, though specific details are not provided.
p.63
Comparative Genomic Hybridization (CGH)
Can CGH differentiate between ploidy levels?
No, it cannot differentiate the ploidy levels (e.g., 2n or 3n).
p.9
Cytogenetic Techniques and Methodologies
What is the process of synchronization in cytogenetics?
Cells are treated with a chemical block, then released to proceed in synchrony to complete division.
p.4
Molecular Cytogenetics
What is molecular targeted therapy in cancer treatment?
A treatment approach that uses genetic markers to target specific cancer cells.
p.25
Karyotyping and Nomenclature
What does 'dup(1q)' signify?
Duplication of the long arm of chromosome 1.
p.59
Comparative Genomic Hybridization (CGH)
What is the purpose of washing and detection in a CGH experiment?
To ensure specificity and clarity of results.
p.2
Karyotyping and Nomenclature
What does nomenclature refer to in cytogenetics?
The naming system for chromosomes and their abnormalities.
p.25
Karyotyping and Nomenclature
What does 'inv(16q)' refer to?
Inversion of the long arm of chromosome 16.
p.52
Fluorescence In-Situ Hybridization (FISH)
What does WCP17 and WCP20 represent in the context of aCML?
WCP17 (red) and WCP20 (green) are whole chromosome paints for chromosomes 17 and 20.
p.45
Molecular Cytogenetics
What is a large YAC probe?
A yeast artificial chromosome used to clone large DNA fragments.
p.7
Limitations and Challenges in Cytogenetics
What level of expertise is required for conventional cytogenetic analysis?
It requires considerable expertise.
p.56
Applications of Cytogenetic Analysis
What does the number 56 refer to in the context of BCR::ABL1?
It may refer to a specific probe or study identifier, but context is needed for clarity.
p.45
Molecular Cytogenetics
What is a repetitive-sequence probe?
A probe that targets repetitive DNA sequences in the genome.
p.53
Applications of Cytogenetic Analysis
What type of study was conducted by Wan in 2014?
A study on chimerism detection using FISH.
p.58
Cytogenetic Techniques and Methodologies
What is multi-color banding (mBAND)?
A technique that allows for the visualization of specific chromosomal regions using multiple colors.
p.44
Cytogenetic Techniques and Methodologies
What type of sequences do repeat sequence probes target?
Unique sequences - tandemly repeated.
p.25
Karyotyping and Nomenclature
What does 'trp(1q)' refer to?
Triplication of the long arm of chromosome 1.
p.64
Cytogenetic Techniques and Methodologies
What types of chromosomal changes can be detected in a genomic array experiment?
Deletion and amplification.
p.2
Molecular Cytogenetics
What is the role of image processing in molecular cytogenetics?
To analyze and interpret images of chromosomes.
p.2
Fluorescence In-Situ Hybridization (FISH)
What are emerging FISH technologies?
New methods for using fluorescence in situ hybridization.
p.64
Cytogenetic Techniques and Methodologies
What is the first step in a genomic array experiment?
Reference DNA preparation.
p.3
Molecular Cytogenetics
What is Immunophenotyping?
A technique used to identify cells based on the types of antigens or markers on their surface.
p.82
Fluorescence In-Situ Hybridization (FISH)
What role does FISH play in hematologic cancer according to Wan TSK and Ma ESK (2012)?
It is significant in the diagnosis and analysis of hematologic cancers.
p.68
Fluorescence In-Situ Hybridization (FISH)
What technique is used to analyze the colors in a 24-colour karyotyping experiment?
M-FISH (Multicolor Fluorescence In Situ Hybridization).
p.37
Fluorescence In-Situ Hybridization (FISH)
What is the significance of the specimen DNA in FISH?
It is the target DNA that the FISH probe binds to for detection.
p.59
Comparative Genomic Hybridization (CGH)
What types of genetic alterations can be detected in a CGH experiment?
Deletion and amplification.
p.29
Karyotyping and Nomenclature
What are the sex chromosome notations for males and females?
XX for females and XY for males.
p.29
Karyotyping and Nomenclature
What does '+X' indicate in cytogenetic nomenclature?
An additional X chromosome.
p.2
Molecular Cytogenetics
What are probes used for in molecular cytogenetics?
To detect specific DNA sequences.
p.2
Comparative Genomic Hybridization (CGH)
What does comparative genomic hybridization (CGH) analyze?
Genomic imbalances across the genome.
p.9
Cytogenetic Techniques and Methodologies
What is the benefit of short-term culture in cytogenetics?
It allows for synchronization of cell division, resulting in a higher proportion of cells in prometaphase and early metaphase.
p.13
Cytogenetic Techniques and Methodologies
What agents are used to block the cell cycle at the S stage?
Fluorodeoxyuridine (FdU) and uridine (Ur).
p.49
Fluorescence In-Situ Hybridization (FISH)
What does stringency refer to in hybridization?
The specificity of the hybridization.
p.58
Fluorescence In-Situ Hybridization (FISH)
What does M-FISH stand for?
Multi-color Fluorescence In-Situ Hybridization.
p.25
Karyotyping and Nomenclature
What does 'inv(9)' indicate in a karyotype?
Inversion of chromosome 9.
p.3
Molecular Cytogenetics
What is the focus of Molecular Cytogenetics?
The study of the relationship between chromosome structure and function at the molecular level.
p.9
Limitations and Challenges in Cytogenetics
What happens during non-synchronization in cytogenetics?
Cells do not proceed in synchrony, which can affect the quality of chromosome analysis.
p.70
Molecular Cytogenetics
What can be determined by mBAND?
Specific chromosomal alterations.
p.29
Karyotyping and Nomenclature
What does '-Y' indicate in cytogenetic nomenclature?
Loss of the Y chromosome.
p.38
Genetic Markers in Cancer
What is the significance of BCR::ABL1 gene fusion in CML?
It is a hallmark of Chronic Myeloid Leukemia.
p.25
Karyotyping and Nomenclature
What does 't(9;22)' signify?
Translocation between chromosomes 9 and 22.
p.25
Applications of Cytogenetic Analysis
What is the context of the partial karyotype provided?
It shows normal variants and chromosome abnormalities in leukemia.
