Genetics Flashcards
1
Q
Example of X-linked dominant disease
A
Hypophosphatemic rickets
2
Q
Presenting signs of hypophophatemic rickts
A
increased phophate wasting at PCT
presents similar to rickets
3
Q
Example of mitochondrial inheritence
A
Mitochondrial myopathies
4
Q
myopathy, lactic acidosis, and CNS disease
red, ragged fibers on muscle biopsy? disease and cause
A
mitochondrial myopathy
due to failure in oxidative phosphorylation
5
Q
Li Fraumeni
A
AD abnormality in TP53 aka SBLA cancer syndrome 1. sarcoma 2. breast 3. leukemia 4. adrenal gland
6
Q
X-linked recessive disorders
A
Oblivious Females Will Give Her Boys Her x-Linked Disorders
Ornithine Transcarbomylase Def (+ ocular albinism) Fabry's Wiskott-Aldrich G6PD Def Hemophilia A + B Brutons agammaglobulinemia Hunter's Lesch-Nyhan DMD + BMD
7
Q
Trinucleotide Repeats (4)
A
HD
Fragile X
Myotonic Dystrophy
Friderichs Ataxia
8
Q
Repeat in HD
A
CAG
9
Q
Repeat in Fragile X
A
CGG
10
Q
Repeat in FA
A
GAA
11
Q
Repeat in Myotonic Dystrophy
A
CTG
