Locus heterogeneity
Locus heterogeneity is a single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci. For example, retinitis pigmentosa has autosomal dominant, autosomal recessive, and X-linked origins. However, only one mutant locus is needed for the phenotype to manifest. Other examples are hypertrophic cardiomyopathy, osteogenesis imperfecta, Familial hypercholesterolemia.
See also
This article is issued from Wikipedia - version of the 4/8/2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.