GENES Flashcards
Which gene goes with which disease
HLA-DR4
RA
HLA-B27
most other AI conditions, think HLA-b27 (except RA) ankylosing spondylitis, psoriasis, inflammatory bowel disease, reactive arthritis
HTT + location
Huntington’s disease
On chromosome 4 (exon)
DMD + location
Duchenne + Becker Muscular Dystrophy
on Xp21
5 ‘UTR region of FMRI gene
Fragile X Syndrome (not in exon)
CFTR (and what is deleted in that gene to mutate it)
Cystic Fibrosis (codes for membrane protein and chloride channel)
F508 deletion causes mutation
DMPK + location
+ result of mutation
Myotonic Dystrophy (protein kinase)
3’ untranslated region - not in exon)
deregulates splicing of other genes
SRY
makes us male (on Y chromosome) - transcription factor protein = switches on other genes.
Rb
TSG - inhibit progression through cell cycle
TP53
Breast cancer + Li Fraumeni’s Syndrome (rare AD cancer predisposition syndrome - 90% cancer by 50) - TSG - inhibit progression through cell cycle + Promote apoptosis
NF1
Neurofibromatosis 1 - TSG - inhibit progression through cell cycle
APC
Familial Adenomatous Polyposis - TSG - inhibit progression through cell cycle
BAX
TSG - Promote Apoptosis
MLH1
HNPCC + Ovarian cancer - TSG - Stability gene (involved in mismatch repair)
MSH2
HNPCC + Ovarian Cancer - TSG - stability gene (involved in mismatch repair)
