Single Gene Disease Chart Disease Inborn Error Other Notes Achondroplasia Autosomal Dominant 1 in 26,000 - 1 in 40,000 no 80% Fragile X Syndrome X-Linked 1 in 4,000 Males, 1 in 8,000 Females no-causes mental retardation Marfan Syndrome Autosomal Dominant 1 in 5,000 no 25% Neurofibromatosis I Autosomal Dominant 1 in 4,000 no 50% "schwanomas" in the CNS PKU Autosomal Recessive 1 in 14,000 yes-Sickle Cell Autosomal Recessive 1 in 500 blacks no-faulty hemoglobin Tay-Sachs Autosomal Recessive 1 in 30 Jews carries the gene yes-4-6 year life span, death Cystic Fibrosis Autosomal Recessive 1 in 3,000 no-CFTR, Floride Channel Huntington's Disease Autosomal Dominant 1 in 250,000 no-degenerative brain tissue Galactosemia Autosomal Recessive ? yes-Albinism Autosomal Recessive ? yes-lack of melanin (pigment) Hemophilia X-Linked ? no-Blood clotting disorder Color Blindness X-Linked ? no-Cone problem in eyes X-Linked 1 in 3,500 boys no 30% X-Linked ? YES-Mode of Inheritane Approximate Incidence
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This note was uploaded on 04/01/2008 for the course B M B 001 taught by Professor Schlegel,peggyle during the Fall '06 term at Penn State.