Chapter 2 Self-test questions

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. Single nucleotide variants (SNVs) occurring in coding DNA are always deleterious/damaging

True correct incorrect

False correct incorrect

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. A non-synonymous single nucleotide polymorphism (SNP) in coding DNA is a common variant that results in an altered amino acid sequence.

True correct incorrect

False correct incorrect

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. Genetic variants are sometimes referred to as polymorphisms because they commonly found in a particular population of individuals.

True correct incorrect

False correct incorrect

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. Which of the following methods is used to identify genetic variants with small damaging effects that contribute to common diseases?

Very sensitive analytical methods such as mass spectrometry. correct incorrect

By theoretical predictions. correct incorrect

By identifying homologues of animal genes that can be studied in controlled laboratory experiments. correct incorrect

In genome wide association studies (GWAS) with very large cohorts of participants. correct incorrect

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. Which term describes a mutation that alters a gene expression pattern, for example by causing increased gene expression or unregulated gene expression?

Lethal Mutation correct incorrect

Loss of Function Mutation correct incorrect

Null Mutation correct incorrect

Gain of Function Mutation correct incorrect

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. Which is the most appropriate genetic term to describe a disease when a mutation in one gene is the sole or main cause of a disease?

Monogenic correct incorrect

Oligogenic correct incorrect

Omnigenic correct incorrect

Polygenic correct incorrect

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. Which of the following is the most appropriate term for the mutations that are acquired throughout the life-course and that can drive the development of cancer.

Chromosome Abnormalities correct incorrect

Germline Mutations correct incorrect

Polymorphisms correct incorrect

Somatic Mutations correct incorrect

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. Which of the following is the most appropriate term for a set of linked variants on a single chromosome segment?

Allele correct incorrect

Biallelic locus correct incorrect

Haplotype correct incorrect

Heterozygote correct incorrect