Table of Contents
What is an example of locus heterogeneity?
Perhaps the most striking example of locus heterogeneity is the disorder retinitis pigmentosa, a retinal dystrophy resulting from the loss of photoreceptors in the retina for which more than 45 genes have been identified (Hartong et al., 2006).
Why is genetic heterogeneity important?
Converging evidence for a wide range of common diseases indicates that heterogeneity is important at multiple levels of causation: (1) individually rare mutations collectively play a substantial role in causing complex illnesses; (2) the same gene may harbor many (hundreds or even thousands) different rare severe …
Is genetic heterogeneity same as locus heterogeneity?
There are two types of genetic heterogeneity: allelic heterogeneity, which occurs when a similar phenotype is produced by different alleles within the same gene; and locus heterogeneity, which occurs when a similar phenotype is produced by mutations at different loci.
Is Cystic Fibrosis allelic heterogeneity?
Other major diseases displaying allelic heterogeneity are allelic mutations in the dystrophin gene which cause Duchenne dystrophy and mutations in the CFTR gene that are known to causes cystic fibrosis.
What causes locus heterogeneity?
Allelic heterogeneity occurs when different variants at a single gene locus cause the same or similar phenotypic expressions of a disease or condition. Locus heterogeneity occurs when variants at different gene loci cause the same or similar phenotypic expressions of a disease or condition.
What does heterogeneity mean?
Definition of heterogeneity : the quality or state of consisting of dissimilar or diverse elements : the quality or state of being heterogeneous cultural heterogeneity.
What does Phenocopied mean?
(FEE-noh-KAH-pee) A phenotypic trait or disease that resembles the trait expressed by a particular genotype, but in an individual who is not a carrier of that genotype.
What is heterozygous vs homozygous?
Heterozygous refers to having inherited different forms of a particular gene from each parent. A heterozygous genotype stands in contrast to a homozygous genotype, where an individual inherits identical forms of a particular gene from each parent.
What is allelic homogeneity?
In human genetic disease: Autosomal dominant inheritance. …the same molecular defect (allelic homogeneity), or they may be heterogeneous, such that tens or even hundreds of different mutations, all affecting the same gene, may be seen in the affected population (allelic heterogeneity).
Is genetic heterogeneity common?
The notion of genetic heterogeneity refers to subsets of a patently single clinical disorder having different genetic roots. At least in the early stages of understanding a disorder, genetic heterogeneity is probably the norm rather than the exception.