Analysis of Genetic Variations I,II
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Questions and Answers

Which of the following is NOT a method used for karyotype analysis?

  • Fluorescent In Situ Hybridization (FISH)
  • Chromosome Number (correct)
  • Structure of Metaphase Chromosomes
  • Composition of Sex Chromosomes

    • What is the effect of linkage on the frequency of recombination between genes on the same chromosome?

  • It decreases the frequency of recombination (correct)
  • It depends on the type of polymorphism
  • It has no effect on the frequency of recombination
  • It increases the frequency of recombination

    • Which of the following is NOT a method used for genetic mapping?

  • Genetic Map
  • Restriction Fragment Length Polymorphisms (RFLP)
  • Physical Map
  • Genome-Wide Association Studies (GWAS) (correct)

    • Which technique utilizes fluorescent probes of DNA that are complementary to specific DNA sequences in the chromosomes?

    <p>Fluorescent In Situ Hybridization (FISH)</p> Signup and view all the answers

    What is the modal number of chromosomes in humans?

    <p>46</p> Signup and view all the answers

    Which type of polymorphism accounts for about 90% of human variation and is characterized by sequence variation of a single base pair?

    <p>Single Nucleotide Polymorphisms (SNPs)</p> Signup and view all the answers

    What is the difference between a genetic map and a physical map of the genome?

    <p>A genetic map shows the genetic distances between genes, while a physical map shows the physical locations of genes.</p> Signup and view all the answers

    Which of the following is true about Simple Sequence Repeats (SSRs)?

    <p>SSRs are highly polymorphic number of small repeats 1-10 bp in length.</p> Signup and view all the answers

    What is the unit of distance used to measure the frequency of recombination between two loci on the same chromosome?

    <p>CentiMorgans (cM)</p> Signup and view all the answers

    What is a haplotype?

    <p>Two or more alleles on the same chromosome that are inherited as a unit</p> Signup and view all the answers

    What is the purpose of linkage analysis?

    <p>To identify a polymorphic allele that co-segregates with a gene of interest located on the same chromosome</p> Signup and view all the answers

    Which method of genetic testing uses ASO probes to detect a known mutation by hybridization?

    <p>Dot Blot Method</p> Signup and view all the answers

    What is the purpose of a genetic map?

    <p>To order markers along a chromosome</p> Signup and view all the answers

    What is the role of LogR Ratio in genome-wide association studies (GWAS)?

    <p>To detect deletions or duplications in the genome</p> Signup and view all the answers

    What is the purpose of multiplex PCR in genetic testing?

    <p>To amplify multiple target sites in a region of DNA simultaneously</p> Signup and view all the answers

    PCR-based methods for RFLP analysis are used to separate DNA fragments according to size by agarose gel electrophoresis. The recombination frequency between the gene and the VNTR is a function of the relative distance between them on the chromosome. Which of the following is the most accurate statement about PCR-based methods for RFLP analysis?

    <p>PCR-based methods for RFLP analysis are used to separate DNA fragments according to size by agarose gel electrophoresis.</p> Signup and view all the answers

    DNA microarray analysis is a technique used to analyze thousands of genes simultaneously. Small sequences of DNA are spotted or synthesized onto a solid support, and samples of DNA or RNA are labeled with a fluorescent tag and hybridized to the microarray. Which of the following is the most accurate statement about DNA microarray analysis?

    <p>DNA microarray analysis is used to analyze thousands of genes simultaneously.</p> Signup and view all the answers

    SNP microarrays are used to analyze chromosomes copy number, including chromosomal insertions and deletions. SNP arrays can also detect loss of heterozygosity (LOH) of a normal allele. Which of the following is the most accurate statement about SNP microarray analysis?

    <p>SNP microarray analysis is used to analyze chromosomes copy number, including chromosomal insertions and deletions.</p> Signup and view all the answers

    SNPs can impact the phenotype of an individual by altering the structure/function of a protein or by changing its level of expression. Which of the following is the most accurate statement about SNPs?

    <p>SNPs are located in the regulatory region, splice site sequence or the coding sequence of a gene.</p> Signup and view all the answers

    Which of the following is the most accurate statement about genetic testing limitations?

    <p>A negative test often does not rule out a clinically diagnosed condition.</p> Signup and view all the answers

    What is the purpose of genetic testing in the evaluation of a patient?

    <p>To provide carrier information.</p> Signup and view all the answers

    Which of the following is the most accurate statement about the differences between screening and diagnostic genetic tests?

    <p>Diagnostic genetic tests are more accurate than screening genetic tests.</p> Signup and view all the answers

    Which of the following is a common genetic test for Fragile X syndrome?

    <p>Cystic Fibrosis</p> Signup and view all the answers

    What is the purpose of genetic testing for cystic fibrosis?

    <p>Predict risk for future disease</p> Signup and view all the answers

    Which molecular tool is most useful to determine the carrier status of the father for cystic fibrosis?

    <p>Bayesian analysis</p> Signup and view all the answers

    What is the risk of the father being a carrier for cystic fibrosis in the given scenario?

    <p>50%</p> Signup and view all the answers

    Which of the following is the correct calculation of the residual risk for CF in the mom's case?

    <p>1/241</p> Signup and view all the answers

    Which type of testing is used to confirm a clinical diagnosis of CF?

    <p>Gene sequencing</p> Signup and view all the answers

    Which test is used to detect the very large full mutation repeats in Fragile X syndrome?

    <p>Southern blot</p> Signup and view all the answers

    What is the purpose of using a methylation sensitive enzyme in Fragile X testing?

    <p>To determine if the fragment is methylated or not</p> Signup and view all the answers

    According to the text, what is the most common mutation associated with cystic fibrosis (CF)?

    <p>∆F508 (F508del)</p> Signup and view all the answers

    According to the text, what is the recommended CF carrier screening test panel?

    <p>23 mutations</p> Signup and view all the answers

    According to the text, what is the residual carrier risk for CF in a non-carrier individual?

    <p>1/241</p> Signup and view all the answers

    According to the text, what is the prior risk for a 28-year-old white female with no known family history of CF to be a carrier?

    <p>1/200</p> Signup and view all the answers

    Which of the following is the best diagnostic method for Prader-Willi Syndrome (PWS)?

    <p>Methylation-sensitive PCR</p> Signup and view all the answers

    What is the purpose of bisulfite treatment in methylation-sensitive PCR?

    <p>To change unmethylated cytosines to uracils</p> Signup and view all the answers

    Which of the following is a risk associated with being a carrier of a premutation in the FMR1 gene?

    <p>Premature ovarian failure in females</p> Signup and view all the answers

    Which genetic testing method is recommended for carrier testing in females with a family history of intellectual disability?

    <p>PCR testing</p> Signup and view all the answers

    Which additional testing method would be most appropriate to detect large deletions in the BRCA1 and BRCA2 genes?

    <p>Southern blot analysis to look for large deletions</p> Signup and view all the answers

    A woman comes for counseling about her risk for breast cancer. Both her mother and her sister were diagnosed with breast and ovarian cancers at an early age. Her sister had sequencing of her BRCA1 and BRCA2 genes and no mutations were detected. What type of aberration might be missed by sequencing alone?

    <p>Chromosome analysis to look for a balanced rearrangement</p> Signup and view all the answers

    Which testing method can be used to analyze the presence of mutations in non-coding regions of the BRCA1 and BRCA2 genes?

    <p>Realtime PCR analysis of introns</p> Signup and view all the answers

    Which of the following is the correct calculation of the residual risk for CF in the mom's case?

    <p>25%</p> Signup and view all the answers

    What is the purpose of bisulfite treatment in methylation-sensitive PCR?

    <p>To detect DNA methylation patterns</p> Signup and view all the answers

    Which of the following is the most accurate statement about genetic testing limitations?

    <p>A negative test always rules out a clinically diagnosed condition</p> Signup and view all the answers

    Which additional testing method would be most appropriate to detect large deletions in the BRCA1 and BRCA2 genes?

    <p>Southern blot analysis to look for large deletions</p> Signup and view all the answers

    What type of aberration might be missed by sequencing alone?

    <p>Chromosome analysis to look for a balanced rearrangement</p> Signup and view all the answers

    What is the recommended CF carrier screening test panel?

    <p>Realtime PCR analysis of introns</p> Signup and view all the answers

    Which of the following is the correct calculation of the residual risk for CF in the mom's case?

    <p>1/241</p> Signup and view all the answers

    Which test is used to detect the very large full mutation repeats in Fragile X syndrome?

    <p>Southern blot</p> Signup and view all the answers

    What is the purpose of bisulfite treatment in methylation-sensitive PCR?

    <p>To detect methylated cytosines</p> Signup and view all the answers

    What is the purpose of linkage analysis?

    <p>To determine the relative distance between genes on the same chromosome</p> Signup and view all the answers

    Which of the following genetic tests is NOT mentioned in the text as a common genetic test for genomic medicine?

    <p>Factor V and Factor II (Thrombophilia)</p> Signup and view all the answers

    What is the purpose of genetic testing for Rett syndrome?

    <p>To establish or confirm a diagnosis</p> Signup and view all the answers

    Which of the following diseases is NOT mentioned in the text as an example where genetic testing may be used to predict risk for future disease?

    <p>Cystic Fibrosis</p> Signup and view all the answers

    Which of the following diseases is NOT mentioned in the text as an example where genetic testing may be used to aid management decisions?

    <p>Rett syndrome</p> Signup and view all the answers

    Which of the following is the most accurate statement about the purpose of methylation-sensitive PCR in genetic testing?

    <p>It is used to distinguish maternal and paternal alleles in Prader-Willi Syndrome and Angelman Syndrome.</p> Signup and view all the answers

    What is the most appropriate additional testing method to detect large deletions in the BRCA1 and BRCA2 genes?

    <p>Southern blot analysis</p> Signup and view all the answers

    What is the most accurate statement about the differences between screening and diagnostic genetic tests?

    <p>Screening tests are used to detect the presence of a genetic disorder in a population, while diagnostic tests are used to confirm or rule out a specific genetic disorder in an individual.</p> Signup and view all the answers

    What is the most accurate statement about SNP microarray analysis?

    <p>SNP microarray analysis is a technique used to analyze thousands of genes simultaneously.</p> Signup and view all the answers

    According to the text, what is the most common mutation associated with cystic fibrosis (CF)?

    <p>∆F508 (F508del)</p> Signup and view all the answers

    Which of the following is the best diagnostic method for Prader-Willi Syndrome (PWS)?

    <p>Methylation-specific PCR (MS-PCR)</p> Signup and view all the answers

    Which testing method can be used to analyze the presence of mutations in non-coding regions of the BRCA1 and BRCA2 genes?

    <p>Next-generation sequencing (NGS)</p> Signup and view all the answers

    What is the most accurate statement about SNP microarray analysis?

    <p>It can detect both single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)</p> Signup and view all the answers

    According to the text, what is the most common mutation associated with cystic fibrosis (CF)?

    <p>∆F508 (F508del)</p> Signup and view all the answers

    According to the text, what is the recommended CF carrier screening test panel?

    <p>23 mutations</p> Signup and view all the answers

    According to the text, what is the prior risk for a 28-year-old white female with no known family history of CF to be a carrier?

    <p>1/200</p> Signup and view all the answers

    What is the correct calculation of the residual risk for CF in the mom's case?

    <p>1/241</p> Signup and view all the answers

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