Genetics Flashcards
1
Q
Classic galactosemia
A
Recessive
2
Q
Lesch Nyhan
A
X linked- recessive
3
Q
Fabry
A
X linked- recessive
4
Q
Hemophilia B
A
X linked- recessive
5
Q
G6PD
A
X linked- recessive
6
Q
Dwarfism
A
Dominant
7
Q
NFT1 and 2
A
Dominant
8
Q
Fragile X
A
CGG
- Hypermethylation –> gene inactivation
9
Q
Huntingtons
A
CAG
- Histone deacetylation
- CAG repeats lead to polyglutamine repeats in the protein coded by this gene
10
Q
Friedrich’s Ataxia
A
GAA
11
Q
Mitochondrial Diseases
A
(Heteroplasmy is responsible for the clinical variability)
- Myoclonic Epilepsy w/ Ragged red fibers
- Leber hereditary optic neuropathy
- MELAS (mito encephalomyopathy with lactic acidosis and stroke like episodes)
12
Q
Pleiotropy
A
Multiple phenotypes possible from a single mutation
13
Q
Mosaicism
A
Nondisjunction during mitosis (problem with somatic cells not germ cells)
14
Q
FAP
A
Auto Dominant
15
Q
Familial Hypercholesterolemia (IIA)
A
Auto Dominant