1. Polymorphism can arise from a variety of mechanisms, with different consequences. Describe and contrast the types of polymorphism that can have the following effects:

a. A change in dosage of a gene or genes

b. A change in the sequence of multiple amino acids in the product of a protein-coding gene

c. A change in the final structure of an RNA produced from a gene

d. A change in the order of genes in a region of a chromosome

e. No obvious effect

2. Aniridia is an eye disorder characterized by the complete or partial absence of the iris and is always present when a mutation occurs in the responsible gene. In one population, 41 children diagnosed with aniridia were born to parents of normal vision among 4.5 million births during a period of 40 years. Assuming that these cases were due to new mutations, what is the estimated mutation rate at the aniridia locus? On what assumptions is this estimate based, and why might this estimate be either too high or too low?

3. Which of the following types of polymorphism would be most effective for distinguishing two individuals from the general population: a SNP, a simple indel, or a microsatellite? Explain your reasoning.

4. Consider two cell lineages that differ from one another by a series of 100 cell divisions. Given the rate of mutation for different types of variation, how different would the genomes of those lineages be?

5. Compare the likely impact of each of the following on the overall rate of mutation detected in any given genome: age of the parents, hot spots of mutation, intrachromosomal homologous recombination, genetic variation in the parental genomes.

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Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Problems
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