Definition of Locus Heterogeneity

Locus heterogeneity is a phenomenon in which the mutations in two or more than two different genes may cause a certain type of disease. This happens when the mutations present at various loci have the tendency to produce a single trait and hence the same phenotype and these mutations can independently cause a specific phenotype.


Locus heterogeneity is associated directly with a number of diseases caused in humans such as retinitis pigmentosa, familial hypercholesterolemia, etc. The role of this heterogeneity aids in the development of therapeutics for the diseases. Genetic mapping cannot be used in the detection of the loci hence the techniques have been modified to overcome such challenges.

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