Hebert diseases Flashcards
1
Q
fragile X syndrome
A
trinucleotide repeat 5’ UTR- gene silencing
2
Q
ataxia telangiectasia
A
defect in ATM gene- DNA repair
3
Q
Hemophilia A
A
transposon
4
Q
spinal muscular atrophy
A
impaired snRNP biogenesis- splicing
5
Q
dyskeratosis congenita
A
telomerase
6
Q
lynch syndrome
A
DNA repair
7
Q
Aplastic anemia
A
telomerase
8
Q
xeroderma pigmentosum
A
DNA repair
9
Q
systemic lupus erythematosus
A
autoanitbody to snRNPS
10
Q
duchenne muscular dystrophy
A
transposon
11
Q
idiopathic pulmonary fibrosis
A
telomerase
12
Q
friedreich ataxia
A
trinucleotide repeat intron 1 tc block/gene silencing
13
Q
myotonic dystrophy
A
trinucleotide repeat 3’UTR gene silencing
14
Q
B-thalassemia
A
mutations in splice sites-representative-up to 15% of all mutations are splice site mutations
15
Q
kearns-sayre syndrome
A
mtDNA-heteroplasmy
