Disease vs Abnormal Protein Flashcards
1
Q
Examples of Autosomal Dominant Inheritance
A
Familial hypercholesterolemia Marfan syndrome Ehlers-Danlos Hereditary spherocytosis Neurofibromatosis, type 1 Adult polycystic kidney disease
2
Q
Familial hypercholesterolemia
A
LDL receptor
3
Q
Marfan syndrome
A
Fibrillin
4
Q
Ehlers-Danlos
A
Collagen
5
Q
Hereditary spherocytosis
A
Spectrin, ankyrin, protein 4.1
6
Q
Neurofibromatosis, type 1
A
Neurofibromin-1
7
Q
Adult polycystic kidney disease
A
Polycystin -1
8
Q
Examples Autosomal recessive inheritance
A
Cystic fibrosis Phenylketonuria Tay-Sachs Severe combined a- and B- Thalassemias Sickle cell anemia
9
Q
Cystic Fibrosis
A
Cystic fibrosis transmembrane regulator
10
Q
PKU
A
Phenylalanine hydroxylase
11
Q
Tay Sachs
A
Hexosaminidase
12
Q
Severe combined immunodeficiency
A
Adenosine deaminase
13
Q
a- & ß- Thalassemias
Sickle cell anemeia
A
Hemoglobin
14
Q
Examples X linked recessive
A
Hemophilia A
Duchenne/ Becker muscular dystrophy
Fragile X
15
Q
Hemophilia A
A
Factor VIII
