Week 6-Phenotypic Variability

Question 1

What are the 4 main factors that affect phenotype?

Answer 1

Environment
Different mutations in the same gene
Unstable mutations
Effects of other genes

Question 2

What is multiple endocrine neoplasia 1?

Answer 2

A mutation in a tumor suppressor gene that increases the chance of developing adenomas

Question 3

What is hereditary hemochromatosis?

Answer 3

Genetic disorder that leads to excessive iron absorbance that can damage organs

Question 4

What is the difference between Duchenne’s and Muscular dystrophy?

Answer 4

In Duchenne’s, the mutation is a frameshift so no active dystrophin is produced yet in muscular some of the active form is still produced so it isn’t as severe

Question 5

How many repeats of CAG are required for Huntington’s disorder to manifest?

Answer 5

More than 40