Genetic Approaches in Disease Research
60 Questions
3 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

Which of the following is NOT a type of DNA sequence variation?

  • Insertion
  • Substitution
  • Alternative splicing (correct)
  • Deletion

    • Which type of mutation has the greatest effect on protein function?

  • Transition
  • Nonsense (correct)
  • Transversion
  • Missense

    • What is the current human genome build?

  • GRCh38 (correct)
  • GRCh39
  • GRCh37
  • GRCh36

    • What is the main difference between single base pair level variations and structural variants?

    <p>Sequence length</p> Signup and view all the answers

    Which factor contributes to the variation in the human genome?

    <p>Mutations over animal and human evolution</p> Signup and view all the answers

    What is a haplotype?

    <p>A genotype inherited from one of the parents</p> Signup and view all the answers

    What is the suggested nomenclature for mostly SNP and short indels?

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

    Which continent generally has a higher number of variants in the human genome?

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

    Which type of indel in exons typically results in a frameshift and premature stop codon?

    <p>1-2 bp insertion</p> Signup and view all the answers

    What is the effect of a 3 bp inframe indel in exons?

    <p>Modifies the function of the protein</p> Signup and view all the answers

    Where are the effects of indels within introns most likely to occur?

    <p>Splice sites</p> Signup and view all the answers

    What is the main effect of small indels in transcription factor binding sites?

    <p>Major effects</p> Signup and view all the answers

    Which of the following is a cause of improper base pairing or insertion/deletions in DNA?

    <p>Base pair modifiers</p> Signup and view all the answers

    Which of the following is a result of radiation exposure?

    <p>Cross-linking</p> Signup and view all the answers

    Why do surface epithelial cells (gut and skin) have short life-times compared to neurons?

    <p>Chemical reactions result in modification at a low frequency</p> Signup and view all the answers

    What can result in small insertions and deletions during DNA replication?

    <p>Strand slippage</p> Signup and view all the answers

    Which of the following is a variant that primarily impacts translation rate?

    <p>Variants in the Kozak sequence</p> Signup and view all the answers

    Which of the following is NOT a variant that impacts polyadenylation, mRNA lifetime, and transport?

    <p>Variants in the 3'-UTR</p> Signup and view all the answers

    Which of the following is a classification of variants based on predicted and/or observed effects?

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

    Which of the following is an example of a variant coding?

    <p>c.34G&gt;C (p.Val12Leu)</p> Signup and view all the answers

    Which method is used to determine the molecular mechanisms of a disease in order to guide treatment?

    <p>Real world approach</p> Signup and view all the answers

    What is the relationship between linked genes and Mendelian inheritance patterns?

    <p>Linked genes do not follow Mendelian inheritance patterns</p> Signup and view all the answers

    What is the probability of crossover between two adjacent genes on a chromosome?

    <p>0.5</p> Signup and view all the answers

    What is the difference between genetic mapping and physical mapping?

    <p>Genetic mapping is based on phenotypic features, while physical mapping is based on molecular markers</p> Signup and view all the answers

    Which type of marker can be phenotype or genotype based?

    <p>Both phenotype and genotype based</p> Signup and view all the answers

    What does LOD score stand for?

    <p>Log of Odds ratio score</p> Signup and view all the answers

    What is the simplest form of the LOD score equation?

    <p>LOD = log [probability of birth sequence with observed linkage value/probability of birth sequence with no linkage]</p> Signup and view all the answers

    What does the null hypothesis state about theta for a dihybrid unlinked gene?

    <p>Theta = 0.25</p> Signup and view all the answers

    What is the range of the recombinant probability (theta) for one meiosis for one gene?

    <p>0 to 0.5</p> Signup and view all the answers

    What did studies of Mendelian disease genes reveal about disease-causing mutations?

    <p>They cause major changes in encoded proteins</p> Signup and view all the answers

    Which of the following is a type of mutation that results in a complete loss of activity of a protein?

    <p>Null mutation</p> Signup and view all the answers

    Which of the following is a type of mutation that gives a new functionality to a protein?

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

    Which of the following is a type of mutation that affects the wild type gene product in a negative way?

    <p>Dominant negative mutation</p> Signup and view all the answers

    Which of the following is a type of mutation that is dependent upon the environment for its phenotype?

    <p>Conditional loss or gain of function mutation</p> Signup and view all the answers

    Which of the following is a cause of DNA replication errors resulting in single nucleotide variants (SNVs)?

    <p>Tautomeric shifts</p> Signup and view all the answers

    Which of the following is a mechanism that can result in small insertions and deletions during DNA replication?

    <p>Strand slippage</p> Signup and view all the answers

    Which of the following can result in chromosomal structural aberrations and complex rearrangements?

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

    Which of the following is a mechanism that can lead to translocations during meiosis or DNA repair?

    <p>Non-allelic homologous recombination</p> Signup and view all the answers

    Which of the following is NOT a type of DNA sequence variation?

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

    What is the effect of a 3 bp inframe indel in exons?

    <p>It changes the amino acid sequence of the protein</p> Signup and view all the answers

    Which of the following is a classification of variants based on their predicted and/or observed effects?

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

    What is the main effect of small indels in transcription factor binding sites?

    <p>They impact gene expression and regulation</p> Signup and view all the answers

    What is the estimated mutation rate for single nucleotide variants (SNVs) in humans?

    <p>2 x 10-8/bp-generation</p> Signup and view all the answers

    What is the suggested nomenclature for mostly SNPs and short indels?

    <p>Genomic variant call format (VCF)</p> Signup and view all the answers

    Which of the following is NOT a factor contributing to variation in the human genome?

    <p>Maintaining neutral variations</p> Signup and view all the answers

    What is the effect of somatic variations in an organism?

    <p>Can have phenotypic effects in progeny of mutant cells</p> Signup and view all the answers

    Which method is used to determine the molecular mechanisms of a disease in order to guide treatment?

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

    What is the relationship between linked genes and Mendelian inheritance patterns?

    <p>Linked genes sometimes follow Mendelian inheritance patterns</p> Signup and view all the answers

    What is the range of the recombinant probability (theta) for one meiosis for one gene?

    <p>0 to 0.5</p> Signup and view all the answers

    What is the main effect of small indels in transcription factor binding sites?

    <p>Reduced transcription factor binding</p> Signup and view all the answers

    Which of the following factors contribute to the variation in the human genome?

    <p>Mutations over animal and human evolution</p> Signup and view all the answers

    What is the main goal of the 1000 Genomes project consortium?

    <p>To analyze genomic data to develop ethnic haplotypes for use as reference genomes</p> Signup and view all the answers

    What is the typical variation from the reference genome in terms of the number of variants?

    <p>About 3 million (about 1%)</p> Signup and view all the answers

    Which continent generally has a higher number of variants in the human genome?

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

    Which of the following is a characteristic of genotype-based markers?

    <p>They use well-characterized sequences spaced along the chromosomes</p> Signup and view all the answers

    What is the range of the recombinant probability (theta) for one meiosis for one gene?

    <p>0 to 0.5</p> Signup and view all the answers

    What is the null hypothesis regarding theta for a dihybrid unlinked gene?

    <p>Theta is equal to 0.25</p> Signup and view all the answers

    What is the LOD score equation used for?

    <p>Estimating linkage</p> Signup and view all the answers

    What does LOD stand for in LOD score?

    <p>Logarithm of Odds</p> Signup and view all the answers

    What is the observed linkage in the simplest form of the LOD score equation?

    <p>Observed recombinant phenotypes</p> Signup and view all the answers

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser