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Modes of Inheritance
Diseases
Question | Answer |
---|---|
ADPKD | Autosomal dominant |
FAP | Autosomal dominant |
Familial hypercholesterolemia | Autosomal dominant |
Hereditary hemorrhagic telangiectasia | Autosomal dominant |
Hereditary spherocytosis | Autosomal dominant |
Huntington Disease | Autosomal dominant |
Li Fraumeni Syndrome | Autosomal dominant |
Marfan Syndrome | Autosomal dominant |
MEN | Autosomal dominant |
NF1 | Autosomal dominant |
NF2 | Autosomal dominant |
Tuberous sclerosis | Autosomal dominant |
vHL disease | Autosomal dominant |
Albinism | Autosomal recessive |
ARPKD | Autosomal recessive |
cystic fibrosis | Autosomal recessive |
glycogen storage diseases | Autosomal recessive |
hemochromatosis | Autosomal recessive |
Kartagener syndrome | Autosomal recessive |
Mucopolysaccharidoses except hunter | Autosomal recessive |
PKU | Autosomal recessive |
Sickle cell anemia | Autosomal recessive |
sphingolipidoses except fabry | Autosomal recessive |
thalassemias | Autosomal recessive |
Wilson disease | Autosomal recessive |
Bruton agammaglobulinemia | X linked recessive |
Wiskott Aldrich | X linked recessive |
Fabry dosease | X linked recessive |
G6PD deficiency | X linked recessive |
Duchenne and Becker | X linked recessive |
Hunter syndrome | X linked recessive |
Hemophilia A and B | X linked recessive |
Ornithine transcarbamylase deficiency | X linked recessive |
What chromosome is PKD1 | ch 16 |
What chromosome is PKD 2 | ch 4 |
5q APC gene | FAP |
abnormal p53 | Li Fraumeni |
FBN1 gene mutation on ch15 | Marfan |
RET gene mutation | MEN2 |
NF1 location | ch17 |
NF2 location | ch22 |
VHL location | ch3 |
Function of dystrophin gene | anchor muscle fibers: intracellular cytoskeleton to a and B dystroglycan |
DMPK gene | myotonic type 1 |
FMR1 gene | Fragile X |
CFTR gene location | ch 7 |
deletion of what AA in cystic fibrosis | Phe |