Autosomal dominant/Mitochondrial Flashcards
Achondroplasia
-caused by? on what ch?
substitution on G1138A in fibroblast growth factor receptor 3 (FGFR3) gene on ch 4p16
Paternal age effect is seen in achrondroplasia in at what age?
> 40
What is the highest known mutation rate known to man?
G1138A
Neurofibromatosis type I
cause by? on what ch?
mutation in neurofibromin (NF1) n ch 17q11
NF1 is a tumor suppressing gene
- loss in function mut.
Neurofibromatosis type I
phenotype?
cafe au lait spots neurofibromas lisch nodules freckling in axillary or inguinal area optic glioma osseous lesions
Osteogenesis Imperfecta type I
cause by? on what ch? results in?
Mut in COL1A1 gene (collagen type I alpha I) on ch 7q21
-results in reduced production of pro alpha 1 chains that reduce type I collagen production by half
Marfan’s syndrome
cause by? on what ch? results in?
mut in FBN1 gene/splicing defect in fibrillin gene on ch 15q21
-results in reduced # of microfibrils (helps things be elastic)
Polycystic kidney disease
cause by? on what ch?
mut in either:
- PKD1 on ch16p13 (85%)
- PKD2 on ch4q22 (15%)
Polycystic kidney disease
phenotype?
bilateral renal cysts
vascular abnormalities
end stage renal disease by 60 yrs in 50%
Polycystic kidney disease has locus homogeneity/heterogeneity?
heterogeneity
Hypercholesterolemia
caused by:
mutations in 3 genes:
LDLK
APOB
PC5K9
Hypercholesterolemia
phenotype
high cholesterol (>310) and LDL levels(>190)
xanthomas (cholesterol under skin)
premature coronary artery disease
What is the new mutation rate of: Achondroplasia? Neurofibromatosis Type I? Marfan's syndrome? Polycystic kidney disease? hypercholerolemia?
Ac: 80% NF: 50% M: 25% PKD: 5% HC: very low
Trinucleotide Repeat disorders are gained in which phase of development?
gametogenesis
Name that repeat! and # of repeat
Huntingtons
Myotonic dystrophy type I
Fragile X
Huntingtons: CAG > 40
Myotonic dystrophy type I: CTG > 50
Fragile X: CGG > 200
