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Flashcards in Genetics Deck (23):
1

Classic galactosemia

Recessive

2

Lesch Nyhan

X linked- recessive

3

Fabry

X linked- recessive

4

Hemophilia B

X linked- recessive

5

G6PD

X linked- recessive

6

Dwarfism

Dominant

7

NFT1 and 2

Dominant

8

Fragile X

CGG
- Hypermethylation --> gene inactivation

9

Huntingtons

CAG
- Histone deacetylation
- CAG repeats lead to polyglutamine repeats in the protein coded by this gene

10

Friedrich's Ataxia

GAA

11

Mitochondrial Diseases

(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

Pleiotropy

Multiple phenotypes possible from a single mutation

13

Mosaicism

Nondisjunction during mitosis (problem with somatic cells not germ cells)

14

FAP

Auto Dominant

15

Familial Hypercholesterolemia (IIA)

Auto Dominant

16

Hereditary Spherocytosis

Auto Dominant

17

Tuberous Sclerosis

Auto Dominant

18

Von Hippel Lindau

Auto Dominant

19

Oslers Weber Rendu

Auto Dominant

20

Cystic Fibrosis

Auto Recessive

21

Duchenne and Becker. Muscular Dystrophy

X linked recessive
Duchenne is frameshift
Becker is point mutation

22

Ornithine transcarbamylase deficiency

X linked recessive

23

Myotonic Muscular dystrophy

CTG repeat