Answered: Mutations at simple sequence repeat…

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Mutations at simple sequence repeat (SSR) loci occur
at a frequency of 1 × 10−3 per locus per gamete,
which is much higher than the rate of base substitutions at SNP loci (whose frequency is about 1 × 10−8
per nucleotide pair per gamete).
a. What is the nature of SSR polymorphisms?
b. By what mechanism are these SSR polymorphisms
likely generated?
c. Copy number variants (CNVs) also mutate at a relatively high frequency. Do these mutations occur
by the same or a different mechanism than that
generating SSRs?
d. The SSR mutation rate is much higher than the
mutation rate for new SNPs. Why then have geneticists recorded more than 50 million SNP loci but
only about 100,000 SSR loci in human genomes?

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