Genetics Flashcards
Classic galactosemia
Recessive
Lesch Nyhan
X linked- recessive
Fabry
X linked- recessive
Hemophilia B
X linked- recessive
G6PD
X linked- recessive
Dwarfism
Dominant
NFT1 and 2
Dominant
Fragile X
CGG
- Hypermethylation –> gene inactivation
Huntingtons
CAG
- Histone deacetylation
- CAG repeats lead to polyglutamine repeats in the protein coded by this gene
Friedrich’s Ataxia
GAA
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)
Pleiotropy
Multiple phenotypes possible from a single mutation
Mosaicism
Nondisjunction during mitosis (problem with somatic cells not germ cells)
FAP
Auto Dominant
Familial Hypercholesterolemia (IIA)
Auto Dominant
Hereditary Spherocytosis
Auto Dominant
Tuberous Sclerosis
Auto Dominant
Von Hippel Lindau
Auto Dominant
Oslers Weber Rendu
Auto Dominant
Cystic Fibrosis
Auto Recessive
Duchenne and Becker. Muscular Dystrophy
X linked recessive
Duchenne is frameshift
Becker is point mutation
Ornithine transcarbamylase deficiency
X linked recessive
Myotonic Muscular dystrophy
CTG repeat
