Genetics Flashcards
HLAB27
Ankylosing Spondylarthritides
HLADR4
Rheumatoid Arthritis (Also DR1) T1DM
Chromosome 7
Cystic Fibrosis
-CFTR Gene
Chromosome 6
HLA’s (MHCs)
Chromosome 22
BCR gene
-Associated with BCR-ABL (Philadelphia. Chromosome Gene)
Implicated 22q11.2 deletion syndrome.
Chromosome 9
ABL1 gene
-Associated with BCR-ABL (Philadelphia Chromosome Gene)
Inheritance:
Von Willebrand Disease
AD
Inheritance:
Alpha-1-Antitrypsin Deficiency
AR
Inheritance:
Wilson’s Disease
AR
Inheritance:
Hemochromatosis
AR
Inheritance:
Haemophilia
XL-Recessive
Inheritance:
ß-Thalassaemia
AR
Inheritance:
Sickle-Cell
AR
Inheritance:
G6PD deficiency
XL-Recessive
Inheritance:
Pyruvate Kinase Deficiency
AR
Inheritance:
Gilbert’s Syndrome
AR
Inheritance:
Hypertrophic Cardiomyopathy
AD + 50% new.
IDH1
Isocitrate Dehydrogenase 1
-Mutation in lots of brain cancers, particularly GBM and Oligodendroglioma.
HLADR3
Sjogren’s
Primary Billary Sclerosis
Myasthenia Gravis
MEN1, MEN2
(Multiple Endocrine Neoplasia 1 and 2)
- Increase incidence of carcinoid tumours
- MEN2: Medullary Thyroid
VHL
Mutation in VHL
-Results in tumour suppressor gene not produced
Inheritance:
Von Hippel Lindau disease
AD
Inheritance:
Duchenne muscular dystrophy
XL-recessive
Inheritance:
Familial Adenomatous Polyposis (FAP)
AD
Inheritance:
Ehler-Danlos syndrome
AD
45X
Turner syndrome
47XXY
Klinefelter’s syndrome
Chromosome trisomy 13
Patau syndrome
HLADR1
Rheumatoid Arthritis (Also DR4)
HLADR2
SLE
Abscence of paternally active genes on chromosome 15
Prader Willi syndrome
Mutation on the maternal copy of
chromosome 15
Angelman syndrome
Inheritance pattern: Osteogenesis imperfecta
AD
Trisomy 18
Edward’s syndrome
HLA DQ2
Coeliac disease
HLA DQ8
Coeliac disease
