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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 ...
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 .
The role and degree of locus heterogeneity is an important consideration in understanding disease phenotypes and in the development of therapeutic treatment for these diseases. [1] The detection of causal genes for diseases impacted by locus heterogeneity is difficult with genetic analysis methods such as linkage analysis and genome sequencing. [9]
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 ...
Detected tissue heterogeneity may be used to weight samples in differential gene-expression analysis to reduce the impact of the heterogeneity. Alternatively, the gene expression profile may be analyzed by cellular deconvolution algorithms to infer the composition of cell types.
Ernst Haeckel supposed that embryonic development recapitulated an animal's phylogeny, and introduced heterochrony as an exception for individual organs. Modern biology agrees instead with Karl Ernst von Baer's view that development itself varies, such as by changing the timing of different processes, to cause a branching phylogeny.
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 ...