Genetic Heterogeneity

Genetic Heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations. This is in contrast to pleiotropy, where a single gene may cause multiple phenotypic expressions or disorders. Genetic heterogeneity can be classified as either "allelic" or "locus".

Allelic heterogeneity means that different mutations within a single gene locus (forming multiple alleles of that gene) cause the same phenotypic expression. For example, there are over 1000 known mutant alleles of the CFTR gene that cause cystic fibrosis.

Locus heterogeneity means that variations in completely unrelated gene loci cause a single disorder. 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 articles related to "genetic heterogeneity, genetic":

Somatic Evolution In Cancer - Somatic Evolution in Progression - Genetic Heterogeneity in Neoplasms
... It is known that there are multiple levels of genetic heterogeneity that are associated with cancer, including single nucleotide polymorphism (SNP), sequence mutations, Microsatellite shifts and ... necessary to integrate multiple levels of genetic variation in the context of complex system and multilevel selection ... System instability is a major contributing factor for genetic heterogeneity ...

Famous quotes containing the word genetic:

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