How does separate denaturation benefit morphology?
Click to see answer
It preserves morphology better.
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How does separate denaturation benefit morphology?
It preserves morphology better.
What is the primary method used in conventional cytogenetics?
Direct examination of chromosomes by light microscopy.
What are satellite sequence probes used for?
Centromeric enumeration.
What is an ideogram?
A diagrammatic representation of human chromosome bands.
What is a karyotype?
A visual representation of an individual's chromosomes.
What does an ideogram represent?
The banding patterns of human chromosomes.
What is one advantage of 24-colour karyotyping?
It permits the identification of subtelomeric translocations.
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.
What is the DOI for the study on optical genome map alignment?
What is the purpose of the Bionano Access software?
Data visualization in cytogenomics.
What is the name of the professor mentioned?
Prof TWan.
What are the structural components of metaphase chromosomes?
Short (p) and long (q) arms.
What is 24-colour karyotyping based on?
Combinational FISH using chromosome painting probes.
What type of variations are the pipelines designed to detect?
Structural variations (SV).
Does conventional cytogenetic analysis require prior clinicopathological information?
No, it does not require prior clinicopathological information.
What is the function of a metaphase finder?
To locate metaphase chromosomes for analysis.
What are the two main branches of cytogenetics discussed in PATH6100?
Conventional cytogenetics and molecular cytogenetics.
What is the primary use of the number 17?
Mainly used in various contexts.
What is the name of the professor mentioned?
Prof TWan.
What is the age of Prof TWan?
How are the short (p) and long (q) arms of chromosomes described?
They are equal and distinct.
What is a mouse karyotype?
A complete set of chromosomes in a mouse, typically used for genetic analysis.
What is BCR::ABL1?
A dual colour dual fusion translocation probe.
How many chromosomes are typically found in a mouse karyotype?
A mouse has 40 chromosomes.
What type of cancer is being studied in relation to tumor suppressor genes?
Esophageal cancer.
Who is associated with the study of conventional cytogenetics mentioned in the text?
Prof TWan.
What can whole chromosome probes identify?
Chromosomal translocations and marker chromosomes.
What technique is used for high-resolution structural variation detection in cytogenomics?
Optical genome mapping.
What is the purpose of optical genome map alignment?
To identify distinct variant classes.
What is the purpose of denaturation in hybridization?
To separate the FISH probe and sample.
What is the significance of map alignment in the context of the pipelines?
It is used for calling structural variations automatically.
What is the significance of the 9p, 13, and 17 regions in esophageal cancer?
These regions contain most tumor suppressor genes.
What is the focus of next-generation cytogenomics?
High-resolution structural variation detection.
What does 'G-band' refer to in cytogenetics?
A pattern of light and dark bands on chromosomes when stained with Giemsa stain.
What does ISCN stand for?
International System for Human Cytogenomic Nomenclature.
What field does the study of optical genome map alignment belong to?
Cytogenomics.
What type of information is required for FISH analysis?
Clinicopathological and/or prior cytogenetics information.
How does 24-colour karyotyping help with unidentified chromosomes?
It allows for the identification of marker (unidentified) chromosomes.
What is a biotin-labeled probe used for?
To detect specific DNA or RNA sequences using biotin as a marker.
What does G-banding in human karyotyping refer to?
Giemsa banding.
What type of cells are cultured to study the mitotic cycle?
Lymphocytes.
What is the resolution range of multi-colour banding (mBAND)?
5-10 Mb.
What are hybridization patterns used for in cytogenetics?
To analyze the presence and arrangement of specific DNA sequences.
What is the source of the modified test DNA?
Abbott Vysis, USA.
What specific regions can CGH help determine?
Homogeneously staining regions (hsr) and double minutes (dmin).
What is the function of biotinylated anti-avidin antibodies?
To amplify the signal in detection systems by binding to avidin.
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.
What is the selection criterion for the FISH probes?
Directly labelled FISH probes.
Give an example of gene amplification in cancer.
HER2 amplification in breast 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.
In which field is the Bionano Access software utilized?
Cytogenomics.
What is the purpose of destroying spindle fibers in karyotype preparation?
To stop the cell cycle at metaphase.
Which staining methods are used to observe chromosome bands in an ideogram?
Q-, G-, and R-staining methods.
What type of cancer is associated with pleural fluid in this case?
Lung Adenocarcinoma.
What is the significance of reversing to G-band?
It helps in identifying chromosomal abnormalities and structural changes.
Who is associated with the ISCN?
Prof. Thomas Wan.
What are the band levels/resolution values mentioned?
330, 400, 550, 700, 850, 500, 900.
In what type of tumors is CGH more often used?
In the investigation of solid tumors.
What are the issues related to FISH analysis?
Sensitivity and specificity issues.
What type of translocations can be detected using 24-colour karyotyping?
Cryptic translocations.
In which journal was the study by Wan et al (2012) published?
Chang Gung Medical Journal.
What is the title of the book edited by Wan TSK in 2017?
Cancer Cytogenetics: Methods and Protocols.
What role do genetic markers play in cancer diagnosis?
They help in identifying the presence of cancerous cells.
What is a limitation of Comparative Genomic Hybridization (CGH) regarding chromosomal changes?
CGH cannot detect chromosomal translocations or inversions.
What are the benefits of using robotic harvesters?
Increased efficiency, reduced labor costs, and improved precision in harvesting.
How are genetic markers used in cancer classification?
They assist in categorizing different types of cancer based on genetic profiles.
What year was the study on multi-colour banding published?
Who is associated with the BCR::ABL1 dual fusion translocation probe?
Prof TWan.
What type of samples can be analyzed using FISH?
Chromosomal preparations from various biological samples.
How technically demanding is the CGH method?
It is a technically demanding method.
What is the role of cultured lymphocytes in cytogenetic studies?
They provide a model for analyzing cell division and chromosomal abnormalities.
What type of interface does Bionano Access software use?
Graphical user interface.
In which countries is the number 17 predominantly used?
Used in France and half in mainland China.
What is the age of Prof TWan?
What do unique sequence probes help detect?
Gene deletion, amplification, and gene fusion.
What is one advantage of multi-colour banding (mBAND)?
Rapid detection of intra- and/or inter-chromosomal rearrangements.
What is a limitation of FISH analysis regarding chromosomal information?
It does not provide a global view of chromosomal complement.
What is the age and gender of the patient with Myelodysplastic syndrome (MDS)?
67 years old male.
What is a direct-labeled probe?
A probe that is labeled directly with a detectable marker.
What company produces the BCR::ABL1 probe?
Abbott Vysis, USA.
What is the significance of studying mouse karyotypes?
It helps in understanding genetic diseases and developmental biology.
What advantage does fluorescence labeling provide in cytogenetics?
It allows for the detection of chromosomal abnormalities and specific genetic markers.
What does the deletion notation 'del(11)(q22)' indicate?
A deletion on the long arm of chromosome 11 at band q22.
What is BCR::ABL1?
A dual fusion gene resulting from a translocation.
What is the purpose of R-banding in human karyotyping?
Reverse banding.
What is one application of FISH in genomics?
Quantitative measurement of the size of specific genomic sequences.
What is the significance of studying the mitotic cycle in lymphocytes?
It helps in understanding cell division and its regulation in the immune system.
What is the significance of high-resolution banding?
It enhances the ability to identify chromosomal abnormalities.
What is the significance of using a metaphase finder in cytogenetics?
It enhances the accuracy of chromosome analysis.
What is the karyotype notation for atypical chronic myeloid leukemia (aCML) in this case?
46,XY,der(20)t(17;20)(q21;q13).
What is the first step in a 24-colour karyotyping experiment?
Preparation of probes.
What is the purpose of synchronizing blood/marrow cells for cytogenetic analysis?
To increase the number of cells at prometaphase.
What is the significance of Prof TWan 73?
The context or details about Prof TWan 73 are not provided.
In which phase of the cell cycle is the karyotype typically prepared?
Metaphase.
What is the purpose of fluorescence labeling in human chromosomes?
To visualize and identify specific chromosomes or regions within chromosomes.
What is the purpose of whole chromosome probes in FISH?
Characterization of an unidentified chromosome.
What is the stage of the Lung Adenocarcinoma in this case?
Stage IV.
What is a robotic metaphase spreader used for?
To automate the process of spreading chromosomes during cytogenetic analysis.
What can conventional cytogenetic analysis help identify?
New chromosomal aberrations.
What stage of the cell cycle is targeted during the Block & Release technique?
Metaphase.
What is ratio coding?
A coding technique that represents data based on the ratio of different components.
Who is the professor associated with this case?
Prof TWan.
What is a technical limitation of FISH analysis?
Instrumentation requirements.
What is a digoxigenin-labeled probe?
A probe labeled with digoxigenin for the detection of nucleic acids.
What does MLL stand for in cytogenetics?
Mixed-Lineage Leukemia.
What is the page range of the article by Wan et al (2012)?
96-110.
What is the purpose of using FISH in the context of bone marrow transplantation?
To detect chimerism in sex mismatched patients.
What is indicated by MLL deletion?
A loss of genetic material associated with certain leukemias.
How do robotic harvesters contribute to agriculture?
They help in optimizing crop yield and minimizing waste during the harvesting process.
What can FISH identify regarding viral infections?
Viral integration sites in chromosomes.
What does Morphology refer to in pathology?
The study of the form and structure of organisms and their specific structural features.
What does FISH help detect in cancer patients?
Early relapse or minimal residual disease.
What is the chromosome notation for a male with a translocation between chromosomes 9 and 22?
46,XY,t(9;22)(q34;q11.2).
What is the desired resolution stage for chromosomes in this method?
750-900 band stage.
What types of chromosomal changes cannot be detected by 24-colour karyotyping?
Intrachromosomal deletions, duplications, or inversions.
What does FISH stand for in molecular cytogenetics?
Fluorescence In-Situ Hybridization.
What is the primary use of FISH in molecular cytogenetics?
To detect changes in human chromosomes using DNA probes.
What type of chromosomes do all mouse chromosomes represent?
They are acrocentric.
What is one advantage of Comparative Genomic Hybridization (CGH)?
It bypasses the need for dividing cells.
What do centromeric probes detect in FISH?
Gain or loss of whole chromosomes.
What is the karyotype notation for the patient with MDS?
46,XY,del(11)(q22).
What unique feature does multi-colour banding (mBAND) provide for chromosomes?
A unique color bar code on every chromosome.
What does FISH stand for in cytogenetics?
Fluorescence In-Situ Hybridization.
Who are the authors of the study on multi-colour banding?
Wan & Ma.
What do dual color break-apart probes identify?
Translocation with unknown partners.
What does 24-colour karyotyping allow for in terms of chromosomal breakpoints?
It allows for refinement of chromosomal breakpoints in some cases.
What is the significance of studying cells in metaphase?
Metaphase is crucial for analyzing chromosome alignment and structure.
What types of chromosomal abnormalities can FISH detect?
Numerical and structural chromosomal abnormalities.
How does the FISH technique visualize DNA?
By using fluorescent probes that bind to specific DNA sequences.
What type of computer systems may be required for CGH analysis?
Dedicated and accurate computer systems.
In which year was significant progress made in image processing for karyotyping?
In the study, what was the sex of the patient?
Male.
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.
Who is associated with the mentioned FISH probes?
Prof TWan.
At what temperature is the hybridization step conducted in the karyotyping experiment?
37 degrees Celsius.
What advantage does FISH provide in genetic analysis?
It allows for the visualization of genetic abnormalities in real-time.
How does FISH assist after bone marrow transplantation?
By determining the origin of marrow cells.
What is a gene mapping application of FISH?
Mapping genes to appropriate chromosome bands.
What aspect of cancer does pathogenesis refer to?
The development and progression of cancer at the molecular level.
In which publication was the study on FISH and gene amplification in breast cancer published?
Annals of Laboratory Medicine, 2014.
What does 'del' indicate in cytogenetic nomenclature?
Deletion.
How can stringency be increased during washing?
By reducing salt concentrations, increasing temperature, increasing washing time, and increasing formamide concentration.
What are the possible chromosome numbers mentioned?
45, 46, 47, 45~48.
What year was the study by Ma, Wan et al. published regarding aCML?
Who is associated with the study of esophageal cancer cell lines?
Prof TWan.
What is the karyotype number for RBG banded chickens?
What is the main focus of the pipelines mentioned in the document?
Automatic structural variation (SV) calling by map alignment.
What is the purpose of determining the number of chromosomes?
To assess chromosomal abnormalities.
What is one advantage of conventional cytogenetic analysis?
It provides an overall picture of chromosomal aberrations.
How many human chromosomes are typically labeled in a fluorescence labeling scheme?
71 chromosomes.
What type of probes are used in FISH?
DNA probes.
How does multi-colour banding (mBAND) assist in karyotyping?
It allows for automated karyotyping of color banded metaphases.
What does 24-colour karyotyping allow for?
Simultaneous visualization of all chromosomes in a metaphase spread in different colors.
What technique is commonly used for fluorescence labeling of chromosomes?
Fluorescence In-Situ Hybridization (FISH).
What is combinational coding?
A method of encoding where multiple inputs are combined to produce a unique output.
What is the smoking history of the patient?
Life-time non-smoker.
What technique is discussed in Wan et al (2012) for molecular karyotyping?
Array Comparative Genomic Hybridization (Array CGH).
What does multi-colour banding (mBAND) refer to?
A cytogenetic technique that uses multiple fluorescent dyes to visualize chromosomal bands.
What stage of cell division does a metaphase spreader focus on?
Metaphase.
What is the advantage of co-denaturation of FISH probe and sample?
It reduces the number of practical steps.
What role does a karyotyper play in cytogenetics?
To analyze and classify chromosomes in a karyotype.
What does 'arrest' refer to in the context of the cell cycle?
The temporary halting of cell cycle progression at a specific phase.
Who is Prof TWan?
A professor associated with the study of mouse karyotypes.
How does a robotic metaphase spreader improve cytogenetic analysis?
By increasing efficiency and consistency in chromosome preparation.
What is a Homogeneously Stained Region (HSR)?
A region on a chromosome that appears uniformly stained, indicating gene amplification.
Who are the editors of the ISCN 2016 reference?
McGowan-Jordan J, Simons A, Schmid M.
What is the primary use of the FISH system?
To detect and localize specific DNA sequences in chromosomes.
In which journal was the study on mBAND published?
Chang Gung Medical Journal.
What are the two probes mentioned?
Probe A and Probe B.
What type of genetic alteration does BCR::ABL1 represent?
Translocation.
What is gene amplification?
The process by which specific genes are replicated multiple times, leading to increased expression.
What does C-banding highlight in human karyotyping?
Constitutive heterochromatin.
What type of probe is a single-copy plasmid?
A probe that targets unique DNA sequences.
What is a Direct Fluorescent-Labeled Probe used for?
It is used in Fluorescence In-Situ Hybridization (FISH) to detect specific DNA sequences.
What year was the study by Wan et al published?
What is the process of reversing to G-band?
It involves staining chromosomes to visualize their banding patterns.
What is the mitotic cycle?
The series of phases that a cell goes through to divide and replicate.
What is the function of dual color translocation probes?
Identifying translocation with known partners.
What information does conventional cytogenetic analysis provide regarding clonal evolution?
It gives information on clonal evolution.
What is karyotyping?
A laboratory technique used to visualize chromosomes in a cell.
What type of cells are typically cultured for chromosome analysis?
Lymphocytes or other dividing cells.
Who is associated with the development of the metaphase finder and karyotyper?
Prof TWan.
What is the significance of the karyotype in Myelodysplastic syndrome?
It helps in diagnosing and understanding the genetic abnormalities associated with MDS.
How does FISH help in detecting chromosomal abnormalities?
By detecting cryptic translocations.
How can FISH be used in therapy monitoring?
To monitor the effects of therapy.
What is the purpose of using an indirect-labeled probe?
To amplify the signal for better detection.
What does ISCN stand for?
International System for Human Cytogenomic Nomenclature.
What is the general process for preparing cells for chromosome analysis?
Culture cells, treat with COLCEMID, harvest, and stain chromosomes.
What is a limitation regarding the resolution of 24-colour karyotyping?
The resolution of the painting probes.
What does FISH help characterize?
Marker chromosomes.
What is the reference for the methods discussed in the context of karyotyping?
Wan et al (2017) Methods Mol Biol;1541: 59-66.
What is the minimum percentage of cells with clonal abnormality required for CGH?
More than 50%.
What are double minutes (dmin) and homogeneously staining regions (hsr) related to?
Chromosomal origins.
What does the term 'reversed DAPI' imply?
A specific imaging technique involving DAPI.
What is the purpose of using XY FISH?
To determine if the transplant is successful.
What methodology is revisited in Wan TSK's 2014 article?
Cancer Cytogenetics methodology.
What is a labor-related limitation of conventional cytogenetic analysis?
It is labor intensive.
What is done after hybridization in a genomic array experiment?
Acquire images.
What does Her2 amplification indicate in breast cancer?
It is associated with aggressive tumor behavior.
What is a consequence of insufficient washing after hybridization?
Increased background noise.
What does 'del(7q)' represent?
Deletion of the long arm of chromosome 7.
What does 'isochromosome' mean?
Loss of the short arm and duplication of the long arm of a chromosome.
What is the primary purpose of ISCN?
To provide a standardized nomenclature for human cytogenomic data.
What does 'double minutes' (dmin) refer to in genetics?
Small, extrachromosomal DNA fragments that can carry amplified genes.
What type of probe is the BCR::ABL1?
Dual colour dual fusion translocation probe.
What is the integration time mentioned for the probes?
0.5 seconds.
What does FISH stand for?
Fluorescence In-Situ Hybridization.
Who is associated with the study of denaturation and hybridization?
Prof. Thomas Wan.
What is a major limitation of conventional cytogenetic analysis regarding cell type?
It requires living cells.
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.
What does FISH stand for in cytogenetics?
Fluorescence In-Situ Hybridization.
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.
What is PHA used for in conventional cytogenetics?
PHA (phytohemagglutinin) is used to stimulate culture for T-lymphocytes.
What imaging technique is mentioned in the context of the test?
DAPI combined image.
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.
What types of crops can robotic harvesters be used for?
Various crops, including fruits, vegetables, and grains.
What was the sex of the donor in the study?
Female.
What is the purpose of a Dual Color Break Apart DNA FISH probe?
To identify unknown gene partners involved in MLL rearrangements.
What gene fusion is identified in Chronic Myeloid Leukemia (CML) using FISH?
BCR::ABL1 gene fusion.
What is the purpose of Nick translation in a genomic array experiment?
To label DNA for hybridization.
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.
What is the additional chromosome notation found in this case?
46,XY,add(20)(q13).
What process follows culture in conventional cytogenetics?
Harvesting.
What is the detection efficiency of yeast artificial chromosomes?
99%.
What complexity poses a challenge in conventional cytogenetic analysis?
Tumor complexity.
What is Molecular Genetics?
The field of biology that studies the structure and function of genes at a molecular level.
What happens to cells blocked in S after the block is released?
They proceed in a wave into G2 and then mitosis.
What are chromosomal fragments used for in a genomic array experiment?
To analyze genetic variations.
What is indicated by 'ins(5q)'?
Insertion in the long arm of chromosome 5.
What is multi-colour banding (mBAND)?
A technique that allows visualization of multiple chromosomal bands using different colors.
What does mBAND stand for?
Multi-colour banding.
What is the purpose of using COLCEMID in chromosome analysis?
COLCEMID is used to arrest cells in metaphase for chromosome analysis.
What is the role of avidin in detection systems?
Avidin binds strongly to biotin, facilitating the detection of biotin-labeled probes.
What does FISH detect in non-dividing cells?
Chromosomal abnormalities.
What is the purpose of schematic representations in coding?
To visually illustrate the relationships and processes involved in coding methods.
What does WCP8 (green) refer to in cytogenetics?
It is a type of whole chromosome probe used for identifying specific chromosomes.
What is the significance of chromosome spreading in cytogenetics?
It allows for the visualization and analysis of chromosomes.
What is the significance of harvesting cells at the metaphase stage?
Metaphase is when chromosomes are most condensed and visible.
What is the significance of LSI in cytogenetics?
LSI stands for 'locus-specific identifier', used to detect specific gene locations.
What specific genetic alterations can FISH identify?
Gene deletion and amplification.
What is a cosmid probe?
A hybrid vector used to clone DNA fragments, typically larger than plasmids.
What is the page range of the article discussing mBAND?
96-110.
What is the detection efficiency of plasmid probes?
50%.
What does DAPI stand for?
4',6-Diamidino-2-phenylindole.
At what temperature is the Nick translation performed in a CGH experiment?
37 °C.
What is the significance of the der(20) in the karyotype?
It indicates a derivative chromosome 20 resulting from a translocation.
What is 24-colour karyotyping?
A technique that uses multiple colors to visualize chromosomes in a single analysis.
What does 24-colour karyotyping require for reference?
It requires reference back to the G-banded karyotype.
At what temperature is hybridization typically performed in a genomic array experiment?
37 degrees Celsius.
What is the significance of using pooled reference DNA from at least 5 people in CGH?
To account for human DNA variation.
Why is synchronization important in cytogenetic analysis?
It leads to elongated chromosomes, which allows for better banding.
What happens if the temperature during washing is too high?
It may wash away the probes and denature the target and probes.
What is the purpose of karyotyping?
To analyze the number and structure of chromosomes.
What is formamide and why is it significant in washing solutions?
Formamide is a toxic organic solvent used to increase stringency.
What is 24-colour karyotyping?
A technique that uses 24 different fluorescent dyes to analyze chromosomes.
What is the significance of 'C-band' in karyotyping?
It is used for the enlargement of heterochromatin.
What is a key capability of 24-colour karyotyping?
Evaluating structural anomalies involving all chromosomes in one FISH experiment.
What is an advantage of high resolution in cytogenetics?
It allows for the detection of micro-deletions.
What does CGH provide an overview of?
Gains and losses of whole chromosomes or regions.
What is a robotic harvester?
A machine designed to automate the process of harvesting crops.
What is one application of FISH in cancer analysis?
Analysis of translocation or fused oncogenes.
What is the significance of the BCR::ABL1 probe?
It is used in the detection of specific chromosomal translocations.
What is the purpose of image processing in karyotyping?
To enhance and analyze chromosome images for accurate identification and classification.
What type of DNA is referenced in the test?
Reference DNA.
What is the focus of Diagnostic Pathology?
The study of disease through the examination of tissues and cells.
What are the main phases of the mitotic cycle?
Prophase, Metaphase, Anaphase, and Telophase.
What is the focus of Wan TSK's 2010 article?
Molecular cytogenetics: techniques, developments, and application.
What is the first step in a Comparative Genomic Hybridization (CGH) experiment?
Reference DNA preparation.
What is a resolution limitation in conventional cytogenetic analysis?
The resolution of chromosome bands is limited.
What is another example of gene amplification?
MLL amplification.
How do genetic markers contribute to cancer prognosis?
They provide information about the likely course and outcome of the disease.
What solution is commonly used for washing slides in post-hybridization?
Standard saline citrate (SSC).
What is the purpose of image acquisition in a karyotyping experiment?
To capture images of the metaphase chromosomes.
What are Cell Markers?
Molecules found on the surface of cells that can be used to identify and classify different cell types.
What is the significance of karyotyping in genetics?
It helps in identifying chromosomal abnormalities and genetic disorders.
What is the significance of the number 60 in the context?
It may refer to a specific measurement or result in the test.
What additional techniques are needed alongside 24-colour karyotyping?
A combination of FISH approaches.
What is the effect of blocking the cell cycle with FdU and Ur?
Cells are unable to complete replication.
What is the purpose of array analysis in a genomic array experiment?
To interpret the results of the hybridization.
What device is used to read the genomic array?
Array reader.
What is a major limitation of 24-colour karyotyping?
It relies on metaphase analysis.
What is a limitation of R-banded karyotypes?
Difficult to analyze telomere ends due to darkness.
What does MLL rearrangement signify?
A structural alteration of the MLL gene, often linked to leukemia.
What is detected by FISH in breast cancer?
Her2 amplification.
How does FISH assist in understanding neoplastic cells?
By defining lineage involvement of neoplastic cells.
What is the role of culture media in chromosome analysis?
Culture media provide nutrients and environment for cell growth.
What technology is often integrated into robotic harvesters?
Sensors and artificial intelligence for better decision-making.
What does 't' represent in cytogenetic nomenclature?
Translocation.
What does a normal MLL indicate?
No genetic alterations in the MLL gene.
What is the size range of inserts for cosmid probes?
0.5-5 kb.
What does Conventional Cytogenetics study?
The structure and function of chromosomes.
What is the role of FISH in cancer diagnosis?
To detect specific gene amplifications and fusions.
What technique is used to visualize chromosomes in conventional cytogenetics?
Banding.
How many filters are used in the M-FISH technique?
Five filters.
What is the size of the insert for repeat sequence probes?
100 kb.
What does FISH stand for?
Fluorescence In-Situ Hybridization.
What is comparative genomic hybridization (CGH)?
A technique used to analyze genomic differences between normal and abnormal cells.
What is the purpose of post-hybridization washing?
To remove unbound probes.
What is the significance of the BCR::ABL1 probe?
It is used in the diagnosis and monitoring of certain types of leukemia.
What is described as an indispensable tool for cancer in Wan TSK and Ma ESK's 2012 article?
Molecular cytogenetics.
What is the significance of the expiration date in clinical use?
To ensure the reliability and effectiveness of the detection system.
What two factors are important in FISH analysis?
Fluorescence intensity and fluorescence background.
What is the first step in conventional cytogenetics?
Culture.
How does the cost of conventional cytogenetic analysis compare?
It is expansive.
What is an example of a specific application of FISH mentioned?
Telomere relocation.
What is a whole-chromosome paint probe?
A pool of many probes that labels an entire chromosome.
What technique can be used for the characterization of the unidentified marker chromosome?
FISH (Fluorescence In-Situ Hybridization).
What can be determined by Comparative Genomic Hybridization (CGH)?
Certain chromosomal abnormalities.
How is the block released to allow cells to proceed to mitosis?
With thymidine.
What is the final step in a CGH experiment?
Image acquisition.
What does 'der(1)t(1;1)' indicate?
Derivation of chromosome 1 with a translocation involving itself.
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.
What is the purpose of direct harvest in cytogenetic analysis?
To obtain cells for analysis from prenatal samples or cancer tissues.
What is the significance of normal metaphase in CGH?
It serves as a reference point for comparing genomic alterations.
Who is Prof TWan?
A professional or researcher associated with cytogenetics, though specific details are not provided.
Who is associated with advancements in image processing and karyotyping?
Prof. T. Wan.
What genetic composition was identified in the peripheral blood of the patient?
XY.
Can CGH differentiate between ploidy levels?
No, it cannot differentiate the ploidy levels (e.g., 2n or 3n).
What is the process of synchronization in cytogenetics?
Cells are treated with a chemical block, then released to proceed in synchrony to complete division.
What is molecular targeted therapy in cancer treatment?
A treatment approach that uses genetic markers to target specific cancer cells.
What is done after denaturing the patient's metaphase in the karyotyping process?
Washing and detection.
What does 'dup(1q)' signify?
Duplication of the long arm of chromosome 1.
What is the purpose of washing and detection in a CGH experiment?
To ensure specificity and clarity of results.
What does nomenclature refer to in cytogenetics?
The naming system for chromosomes and their abnormalities.
What type of signal do plasmid probes produce?
Small, discrete.
What does 'inv(16q)' refer to?
Inversion of the long arm of chromosome 16.
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.
What decade saw advancements in karyotyping techniques?
1990s.
What is a large YAC probe?
A yeast artificial chromosome used to clone large DNA fragments.
What level of expertise is required for conventional cytogenetic analysis?
It requires considerable expertise.
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.
What is a repetitive-sequence probe?
A probe that targets repetitive DNA sequences in the genome.
Who is associated with the FISH probe mentioned?
Prof TWan.
What type of study was conducted by Wan in 2014?
A study on chimerism detection using FISH.
What is multi-color banding (mBAND)?
A technique that allows for the visualization of specific chromosomal regions using multiple colors.
What type of sequences do repeat sequence probes target?
Unique sequences - tandemly repeated.
What does 'trp(1q)' refer to?
Triplication of the long arm of chromosome 1.
What types of chromosomal changes can be detected in a genomic array experiment?
Deletion and amplification.
What is the role of image processing in molecular cytogenetics?
To analyze and interpret images of chromosomes.
What are emerging FISH technologies?
New methods for using fluorescence in situ hybridization.
What is the first step in a genomic array experiment?
Reference DNA preparation.
What is Immunophenotyping?
A technique used to identify cells based on the types of antigens or markers on their surface.
What type of bond is mentioned in relation to the FISH probe?
Covalent bond.
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.
What is analyzed after hybridization in a CGH experiment?
Ratio analysis.
What technique is used to analyze the colors in a 24-colour karyotyping experiment?
M-FISH (Multicolor Fluorescence In Situ Hybridization).
What cycle does fluorodeoxyuridine (FdU) inhibit?
The folic acid cycle.
What is the significance of the specimen DNA in FISH?
It is the target DNA that the FISH probe binds to for detection.
What types of genetic alterations can be detected in a CGH experiment?
Deletion and amplification.
What are the sex chromosome notations for males and females?
XX for females and XY for males.
What does '+X' indicate in cytogenetic nomenclature?
An additional X chromosome.
What are probes used for in molecular cytogenetics?
To detect specific DNA sequences.
What does comparative genomic hybridization (CGH) analyze?
Genomic imbalances across the genome.
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.
What agents are used to block the cell cycle at the S stage?
Fluorodeoxyuridine (FdU) and uridine (Ur).
What does stringency refer to in hybridization?
The specificity of the hybridization.
What does M-FISH stand for?
Multi-color Fluorescence In-Situ Hybridization.
What does 'inv(9)' indicate in a karyotype?
Inversion of chromosome 9.
What is the focus of Molecular Cytogenetics?
The study of the relationship between chromosome structure and function at the molecular level.
What happens during non-synchronization in cytogenetics?
Cells do not proceed in synchrony, which can affect the quality of chromosome analysis.
What can be determined by mBAND?
Specific chromosomal alterations.
What does '-Y' indicate in cytogenetic nomenclature?
Loss of the Y chromosome.
What is the signal type for repeat sequence probes?
Large, diffuse.
What is the significance of BCR::ABL1 gene fusion in CML?
It is a hallmark of Chronic Myeloid Leukemia.
What is the detection efficiency of cosmid probes?
80-95%.
What does 't(9;22)' signify?
Translocation between chromosomes 9 and 22.
What is the context of the partial karyotype provided?
It shows normal variants and chromosome abnormalities in leukemia.
