Week 6-Phenotypic Variability Flashcards
1
Q
What are the 4 main factors that affect phenotype?
A
Environment
Different mutations in the same gene
Unstable mutations
Effects of other genes
2
Q
What is multiple endocrine neoplasia 1?
A
A mutation in a tumor suppressor gene that increases the chance of developing adenomas
3
Q
What is hereditary hemochromatosis?
A
Genetic disorder that leads to excessive iron absorbance that can damage organs
4
Q
What is the difference between Duchenne’s and Muscular dystrophy?
A
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
5
Q
How many repeats of CAG are required for Huntington’s disorder to manifest?
A
More than 40
