Chapter 5 loci Flashcards
Missense
Sickle cell
Niemann-pick
Nonsense
B-thalassemia
Framshift
Tay-Sachs
O blood type allele
Trinucleotide deletion
Cystic fibrosis
Trinucleotide repeat
Huntington’s
Fragile X
Pleiotropism
Differing phenotypes
Ex: Sickle cell
Gain of function mutation
Huntington Dz
Autosomal dominant
Huntington Dz Neurofibromatosis Von Willebrand Dz Hereditary spherocytosis Marfan Elhers-Danlos (except Type VI and VIIc) Osteogenesis Imperfecta Familial Hypercholesterolemia
Others not discussed
Autosomal Recessive
Cystic fibrosis All lysosomal storage Dz All glycogen storage Dz A1-antitrypsin deficiency Sickle cell Thalassemia Elhers-Danlos Type VI: Kyphoscoliosis (most common)
Don’t know? Guess AR
X-linked
G6PD deficiency
Hemophilia
Fragile X syndrome
Hunter’s syndrome
Cystic fibrosis
Chr 7q31.2
Tay-Sachs
Chromosome 15
Hexosaminidase A
Niemann-Pick
Chr 11p15.4 missense
Sphingomyelinase
Type A: acute/infant
Type B: chronic/no CNS
Type C: most common
Gaucher Dz
Glucocerebrosidase
Type I: chronic, common, no CNS
Type II: acute
Type III: intermediate
MPS I: Hurler
A-1-iduronidase
MPS II: Hunter
Iduronate-2-sulfatase
Von Gierke (Type I)
Glucose-6-phosphatase
McArdle (type V)
Muscle Phosphorylase
Pompe (type II)
Lysosomal glycosidase / Acid Maltase
Complex Multigenic disorders
Atherosclerosis Diabetes Mellitus HTN Cleft palate Neural tube defects
DiGeorge
Chr 22q11.2
Huntington Dz
Chr 4p16.3
CAG repeats
Fragile X
Xq27.3
Mitochondrial mutations
Leber hereditary optic neuropathy
Genomic imprinting (Prader-Willi / Angelman)
Deletion of Chr 15q12
Elhers-Danlos
Classic (type I/II): COL5A 1/2
Vascular (type IV): COL3A1
Kyphoscoliosis (type VI): lysyl hydroxylase
Marfan Syndrome
FBN1: Chr 15q21.1
FBN2: Chr 5q23.31
