Suvarna Garge (Editor)

Locus heterogeneity

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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.

References

Locus heterogeneity Wikipedia