Hereditary Disease Inheritance Flashcards
(24 cards)
Amelogenesis imperfecta
X-linked dominant
Hemophilia A
x-linked recessive
Neurofibromatosis type I
Autosomal dominant
Sickle cell anemia
Autosomal recessive
missense mutation, 6th AA; Glu–>Val
Hypophosphatemia (Rickets)
X-linked dominant
Duchenne muscular dystrophy
X-linked recessive
Li-Fraumeni syndrome
Autosomal dominant
Hereditary non-polyposis colorectal cancer (HNPCC), ie lynch syndrome
Autosomal recessive
Fragile X syndrome
X linked dominant (trinucleotide repeat)
Red-green colour blindness
X linked recessive
Huntington chorea
autosomal dominant (trinucleotide repeat)
Cystic fibrosis
autosomal recessive
Alport syndrome
x linked dominant
Hemophilia B
x linked recessive
Achondroplasia
autosomal dominant
PKU (phenylketonuria)
autosomal recessive
Marfans syndrome
autosomal dominant
osteogenesis imperfecta
autosomal dominant
Albinism
autosomal recessive
Familial hypercholesterolemia
autosomal dominant
List 3 autosomal dominant diseases
- osteogenesis imperfecta
- achondroplasia
- familial hypercholesterolemia
List 3 autosomal recessive diseases
- PKU
- albinism
- cystic fibrosis
- sickle cell
List 3 x-linked dominant
- amelogenesis imperfecta
- fragile X syndrome
- hypophosphatemia (Rickets)
- alports syndrome
List 3 x-linked recessive
- hemophilia A
- duchennes muscular dystrophy
- red-green colourblindness
