Genetic Approaches in Disease Research

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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?

Sequence length Signup and view all the answers

Which factor contributes to the variation in the human genome?

Mutations over animal and human evolution Signup and view all the answers

What is a haplotype?

A genotype inherited from one of the parents Signup and view all the answers

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

SNV Signup and view all the answers

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

Africa Signup and view all the answers

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

1-2 bp insertion Signup and view all the answers

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

Modifies the function of the protein Signup and view all the answers

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

Splice sites Signup and view all the answers

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

Major effects Signup and view all the answers

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

Base pair modifiers Signup and view all the answers

Which of the following is a result of radiation exposure?

Cross-linking Signup and view all the answers

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

Chemical reactions result in modification at a low frequency Signup and view all the answers

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

Strand slippage Signup and view all the answers

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

Variants in the Kozak sequence Signup and view all the answers

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

Variants in the 3'-UTR Signup and view all the answers

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

Pathogenic Signup and view all the answers

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

c.34G>C (p.Val12Leu) Signup and view all the answers

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

Real world approach Signup and view all the answers

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

Linked genes do not follow Mendelian inheritance patterns Signup and view all the answers

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

0.5 Signup and view all the answers

What is the difference between genetic mapping and physical mapping?

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

Which type of marker can be phenotype or genotype based?

Both phenotype and genotype based Signup and view all the answers

What does LOD score stand for?

Log of Odds ratio score Signup and view all the answers

What is the simplest form of the LOD score equation?

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

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

Theta = 0.25 Signup and view all the answers

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

0 to 0.5 Signup and view all the answers

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

They cause major changes in encoded proteins 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?

Null mutation Signup and view all the answers

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

Neomorph 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?

Dominant negative mutation Signup and view all the answers

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

Conditional loss or gain of function mutation Signup and view all the answers

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

Tautomeric shifts Signup and view all the answers

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

Strand slippage Signup and view all the answers

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

FoSTeS Signup and view all the answers

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

Non-allelic homologous recombination Signup and view all the answers

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

Substitutions Signup and view all the answers

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

It changes the amino acid sequence of the protein Signup and view all the answers

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

Pathogenic Signup and view all the answers

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

They impact gene expression and regulation Signup and view all the answers

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

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

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

Genomic variant call format (VCF) Signup and view all the answers

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

Maintaining neutral variations Signup and view all the answers

What is the effect of somatic variations in an organism?

Can have phenotypic effects in progeny of mutant cells Signup and view all the answers

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

GWAS Signup and view all the answers

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

Linked genes sometimes follow Mendelian inheritance patterns Signup and view all the answers

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

0 to 0.5 Signup and view all the answers

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

Reduced transcription factor binding Signup and view all the answers

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

Mutations over animal and human evolution Signup and view all the answers

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

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

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

About 3 million (about 1%) Signup and view all the answers

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

Africa Signup and view all the answers

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

They use well-characterized sequences spaced along the chromosomes Signup and view all the answers

Genetic Approaches in Disease Research

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Questions and Answers

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

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

What is the current human genome build?

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

Which factor contributes to the variation in the human genome?

What is a haplotype?

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

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

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

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

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

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

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

Which of the following is a result of radiation exposure?

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

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

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

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

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

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

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

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

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

What is the difference between genetic mapping and physical mapping?

Which type of marker can be phenotype or genotype based?

What does LOD score stand for?

What is the simplest form of the LOD score equation?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

What is the effect of somatic variations in an organism?

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

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

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

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

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

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

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

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

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

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

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

What is the LOD score equation used for?

What does LOD stand for in LOD score?

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

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