single gene disorder

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single gene disorder

A hereditary disorder caused by a mutant allele of a single gene—e.g., achondroplastic dwarfism, autosomal dominant polycystic kidney disease, cystic fibrosis, Duchenne muscular dystrophy, familial polyposis coli, haemophilia, Huntington’s disease, retinoblastoma, sickle cell disease, etc.
References in periodicals archive ?
Advances in the treatment of single gene disease such as Cystic Fibrosis will revolutionize the healthcare field for certain individuals (The Futurist, 1989).
The ability of developing human embryos to accept blastomere transplants and integrate them into their architecture offers proof-of-principle that single gene diseases might be treatable at the embryonic stage of life, according to a report in the April issue of Fertility & Sterility.
In contrast to single gene diseases where inheritance patterns are relatively simple, the pattern in MS is much more complex.

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