Biochemistry & Medical Genetics Flashcards
1
Q
Familial Hypercholesterolemia (LDL Receptor deficiency) Huntington Disease Neurofibromatosis 1 Marfan Syndrome Acute Intermittent Porphyria
Q: Mode of inheritance?
A
Autosomal Dominant
2
Q
Sickle Cell Anemia
Cystic Fibrosis
Phenylketonuria (PKU)
Tay-Sachs Disease (Hexosaminidase A Deficiency)
Q: Mode of inheritance?
A
Autosomal recessive
3
Q
Duchenne Muscular Dystrophy Lesch-Nyhan Syndrome (HGPRT Deficiency) Glucose-6 Phosphate Dehydrogenase Deficiency Hemophilia A & B Menkes Disease SCID
Q: Mode of inheritance?
A
X-linked Recessive
4
Q
Fragile X Syndrome
Hypophosphatemic Rickets
Q: Mode of inheritance?
A
X-linked Dominant
