67 Questions
Which of the following is NOT a method used for karyotype analysis?
Chromosome Number
What is the effect of linkage on the frequency of recombination between genes on the same chromosome?
It decreases the frequency of recombination
Which of the following is NOT a method used for genetic mapping?
Genome-Wide Association Studies (GWAS)
Which technique utilizes fluorescent probes of DNA that are complementary to specific DNA sequences in the chromosomes?
Fluorescent In Situ Hybridization (FISH)
What is the modal number of chromosomes in humans?
46
Which type of polymorphism accounts for about 90% of human variation and is characterized by sequence variation of a single base pair?
Single Nucleotide Polymorphisms (SNPs)
What is the difference between a genetic map and a physical map of the genome?
A genetic map shows the genetic distances between genes, while a physical map shows the physical locations of genes.
Which of the following is true about Simple Sequence Repeats (SSRs)?
SSRs are highly polymorphic number of small repeats 1-10 bp in length.
What is the unit of distance used to measure the frequency of recombination between two loci on the same chromosome?
CentiMorgans (cM)
What is a haplotype?
Two or more alleles on the same chromosome that are inherited as a unit
What is the purpose of linkage analysis?
To identify a polymorphic allele that co-segregates with a gene of interest located on the same chromosome
Which method of genetic testing uses ASO probes to detect a known mutation by hybridization?
Dot Blot Method
What is the purpose of a genetic map?
To order markers along a chromosome
What is the role of LogR Ratio in genome-wide association studies (GWAS)?
To detect deletions or duplications in the genome
What is the purpose of multiplex PCR in genetic testing?
To amplify multiple target sites in a region of DNA simultaneously
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?
PCR-based methods for RFLP analysis are used to separate DNA fragments according to size by agarose gel electrophoresis.
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?
DNA microarray analysis is used to analyze thousands of genes simultaneously.
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?
SNP microarray analysis is used to analyze chromosomes copy number, including chromosomal insertions and deletions.
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?
SNPs are located in the regulatory region, splice site sequence or the coding sequence of a gene.
Which of the following is the most accurate statement about genetic testing limitations?
A negative test often does not rule out a clinically diagnosed condition.
What is the purpose of genetic testing in the evaluation of a patient?
To provide carrier information.
Which of the following is the most accurate statement about the differences between screening and diagnostic genetic tests?
Diagnostic genetic tests are more accurate than screening genetic tests.
Which of the following is a common genetic test for Fragile X syndrome?
Cystic Fibrosis
What is the purpose of genetic testing for cystic fibrosis?
Predict risk for future disease
Which molecular tool is most useful to determine the carrier status of the father for cystic fibrosis?
Bayesian analysis
What is the risk of the father being a carrier for cystic fibrosis in the given scenario?
50%
Which of the following is the correct calculation of the residual risk for CF in the mom's case?
1/241
Which type of testing is used to confirm a clinical diagnosis of CF?
Gene sequencing
Which test is used to detect the very large full mutation repeats in Fragile X syndrome?
Southern blot
What is the purpose of using a methylation sensitive enzyme in Fragile X testing?
To determine if the fragment is methylated or not
According to the text, what is the most common mutation associated with cystic fibrosis (CF)?
∆F508 (F508del)
According to the text, what is the recommended CF carrier screening test panel?
23 mutations
According to the text, what is the residual carrier risk for CF in a non-carrier individual?
1/241
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?
1/200
Which of the following is the best diagnostic method for Prader-Willi Syndrome (PWS)?
Methylation-sensitive PCR
What is the purpose of bisulfite treatment in methylation-sensitive PCR?
To change unmethylated cytosines to uracils
Which of the following is a risk associated with being a carrier of a premutation in the FMR1 gene?
Premature ovarian failure in females
Which genetic testing method is recommended for carrier testing in females with a family history of intellectual disability?
PCR testing
Which additional testing method would be most appropriate to detect large deletions in the BRCA1 and BRCA2 genes?
Southern blot analysis to look for large deletions
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?
Chromosome analysis to look for a balanced rearrangement
Which testing method can be used to analyze the presence of mutations in non-coding regions of the BRCA1 and BRCA2 genes?
Realtime PCR analysis of introns
Which of the following is the correct calculation of the residual risk for CF in the mom's case?
25%
What is the purpose of bisulfite treatment in methylation-sensitive PCR?
To detect DNA methylation patterns
Which of the following is the most accurate statement about genetic testing limitations?
A negative test always rules out a clinically diagnosed condition
Which additional testing method would be most appropriate to detect large deletions in the BRCA1 and BRCA2 genes?
Southern blot analysis to look for large deletions
What type of aberration might be missed by sequencing alone?
Chromosome analysis to look for a balanced rearrangement
What is the recommended CF carrier screening test panel?
Realtime PCR analysis of introns
Which of the following is the correct calculation of the residual risk for CF in the mom's case?
1/241
Which test is used to detect the very large full mutation repeats in Fragile X syndrome?
Southern blot
What is the purpose of bisulfite treatment in methylation-sensitive PCR?
To detect methylated cytosines
What is the purpose of linkage analysis?
To determine the relative distance between genes on the same chromosome
Which of the following genetic tests is NOT mentioned in the text as a common genetic test for genomic medicine?
Factor V and Factor II (Thrombophilia)
What is the purpose of genetic testing for Rett syndrome?
To establish or confirm a diagnosis
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?
Cystic Fibrosis
Which of the following diseases is NOT mentioned in the text as an example where genetic testing may be used to aid management decisions?
Rett syndrome
Which of the following is the most accurate statement about the purpose of methylation-sensitive PCR in genetic testing?
It is used to distinguish maternal and paternal alleles in Prader-Willi Syndrome and Angelman Syndrome.
What is the most appropriate additional testing method to detect large deletions in the BRCA1 and BRCA2 genes?
Southern blot analysis
What is the most accurate statement about the differences between screening and diagnostic genetic tests?
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.
What is the most accurate statement about SNP microarray analysis?
SNP microarray analysis is a technique used to analyze thousands of genes simultaneously.
According to the text, what is the most common mutation associated with cystic fibrosis (CF)?
∆F508 (F508del)
Which of the following is the best diagnostic method for Prader-Willi Syndrome (PWS)?
Methylation-specific PCR (MS-PCR)
Which testing method can be used to analyze the presence of mutations in non-coding regions of the BRCA1 and BRCA2 genes?
Next-generation sequencing (NGS)
What is the most accurate statement about SNP microarray analysis?
It can detect both single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
According to the text, what is the most common mutation associated with cystic fibrosis (CF)?
∆F508 (F508del)
According to the text, what is the recommended CF carrier screening test panel?
23 mutations
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?
1/200
What is the correct calculation of the residual risk for CF in the mom's case?
1/241
Test your knowledge on genetic variations with this quiz! Learn about Simple Sequence Repeats (SSRs), Variable Number of Tandem Repeats (Minisatellites), and Insertions or deletions of bases (INDELS). Challenge yourself with questions on these highly polymorphic genetic markers.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
