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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 |