Chapter 5 loci Flashcards
1
Q
Missense
A
Sickle cell
Niemann-pick
2
Q
Nonsense
A
B-thalassemia
3
Q
Framshift
A
Tay-Sachs
O blood type allele
4
Q
Trinucleotide deletion
A
Cystic fibrosis
5
Q
Trinucleotide repeat
A
Huntington’s
Fragile X
6
Q
Pleiotropism
A
Differing phenotypes
Ex: Sickle cell
7
Q
Gain of function mutation
A
Huntington Dz
8
Q
Autosomal dominant
A
Huntington Dz Neurofibromatosis Von Willebrand Dz Hereditary spherocytosis Marfan Elhers-Danlos (except Type VI and VIIc) Osteogenesis Imperfecta Familial Hypercholesterolemia
Others not discussed
9
Q
Autosomal Recessive
A
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
10
Q
X-linked
A
G6PD deficiency
Hemophilia
Fragile X syndrome
Hunter’s syndrome
11
Q
Cystic fibrosis
A
Chr 7q31.2
12
Q
Tay-Sachs
A
Chromosome 15
Hexosaminidase A
13
Q
Niemann-Pick
A
Chr 11p15.4 missense
Sphingomyelinase
Type A: acute/infant
Type B: chronic/no CNS
Type C: most common
14
Q
Gaucher Dz
A
Glucocerebrosidase
Type I: chronic, common, no CNS
Type II: acute
Type III: intermediate
15
Q
MPS I: Hurler
A
A-1-iduronidase
