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Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms. 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.
Homogeneity and heterogeneity; only ' b ' is homogeneous Homogeneity and heterogeneity are concepts relating to the uniformity of a substance, process or image.A homogeneous feature is uniform in composition or character (i.e., color, shape, size, weight, height, distribution, texture, language, income, disease, temperature, radioactivity, architectural design, etc.); one that is heterogeneous ...
This glossary of biology terms is a list of definitions of fundamental terms and concepts used in biology, the study of life and of living organisms.It is intended as introductory material for novices; for more specific and technical definitions from sub-disciplines and related fields, see Glossary of cell biology, Glossary of genetics, Glossary of evolutionary biology, Glossary of ecology ...
Allelic heterogeneity is the phenomenon in which different mutations at the same locus lead to the same or very similar phenotypes. These allelic variations can arise as a result of natural selection processes, as a result of exogenous mutagens , genetic drift , or genetic migration .
A common example is the case where the heterozygote conveys both advantages and disadvantages, while both homozygotes convey a disadvantage. A well-established case of heterozygote advantage is that of the gene involved in sickle cell anaemia.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
For example, some individuals of the salamander species Ambystoma talpoideum delay the metamorphosis of the skull. [11] Reilly and colleagues argue we can define these variant individuals as paedotypic (with truncated development relative to the ancestral condition), peratypic (with extended development relative to the ancestral condition), or ...
Phenotypic heterogeneity describes different mutations in the same gene that can sometimes give rise to strikingly different phenotypes.. E.g., certain loss-of-function mutations in the RET gene, which encodes a receptor tyrosine kinase, can cause dominantly inherited failure of development of colonic ganglia, leading to defective colonic motility and severe chronic constipation (Hirschsprung ...