Human Genome Variation Quiz

What are the primary causes of mutations passed to the next generation?

• Primary DNA damage

• Failure of repair systems

• Both A and B

• None of the above

What are the two main methods for resolving double-strand breaks?

• Homologous recombination and nonhomologous end-joining

• Base-excision repair and mismatch repair

• DNA polymerase and RNA polymerase

• None of the above

What are synonymous (silent) substitutions?

• Mutations that change a base but not the amino acid

• Mutations that change the amino acid

• Mutations that cause a stop signal

• None of the above

How many SNPs does each human genome contain?

• About 3 to 4 million

• About 1 to 2 million

• About 5 to 6 million

• About 2 to 3 million

What Affects SNP Diversity?

• Mutation rate

• DNA repair efficiency

• Natural selection and population history

What Is Structural Variation (SV)?

• Large-scale changes in chromosome structure

• Small changes in DNA sequence

• Changes in gene expression

How Big Are Structural Variants?

• From >1,000 base pairs to whole chromosomes

• Only small segments of DNA

• Always less than 1,000 base pairs

Why Is Structural Variation Important?

• It is more common than previously thought

• It has no impact on health

• It is only found in certain populations

What Does Structural Variation Mean for Evolution and Health?

• Some can cause disease

• All structural variants are harmful

• They have no effect on traits

What Are Segmental Duplications (LCRs)?

• Long duplicated DNA segments

• Short repetitive sequences

• Unique DNA sequences