Genetic Diseases Inheritance and Chromosome Patterns Flashcards
Tuberous Sclerosis
AD TSC1 9q34 and TSC2 16p13.3 Loss of function dis-regulation of growth factors
Phenylketoruia
AR Mutation in phenylalanine hydroxylase (PAH) or BH4 2q22-q24.2 Loss of Function
Pompe Disease
Autosomal Recessie Defect in GAA that makes acid alpha-glucosidase ch 17
Jervell and Lang Nielson
AR
Retinoblastoma 1
AD mutation in RB1 13q14.2 loss of function
Myotonic Dystrophy 1
AD CTG repeats in 3’ UTR of DMPK gene of Ch19
Pedred Syndrome
AR
Neurofibromatosis 1
AD Mutation in NF1 Ch17 Loss of function
Sandhoff
AR Mutation in HEXB on Ch5q13 loss of function
Fabry
X-Recessive Defect in GLA that makes alpha-galctosidase
Congenital Adrenal Hyperplasia
AR 21-Hydroxylase Deficiency Caused by CYP21A2 ch6
Hereditary Hemachromatosis
AR HFE Mutation in ch 6
Tay-Sachs
AR Mutation in HEXA on Ch.15q.24.1 loss of function
Hydophosphatemic Rickets
X-Dominant PHEX
Rett
X dominant MECP2 mutation