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- Allelic_heterogeneity abstract "Allelic heterogeneity is the phenomenon in which different mutations at the same locus cause a similar phenotype. These allelic variations can arise as a result of natural selection processes, as a result of exogenous mutagens, genetic drift, or genetic migration. Many of these mutations take the form of single nucleotide polymorphisms in which a single nucleotide base is altered compared to a consensus sequence. They can also exist as copy number variants (CNV) in which the copies of a gene or DNA sequence is different from the population.Mutated alleles expressing allelic heterogeneity can be classified as adaptive or disadaptive. These mutations can occur in the germ line cells, somatic cells, or in the mitochondrial. Mutations in germ line cells can be inherited as well as mitochondrial allelic mutations. The mitochondrial allelic mutations are inherited maternally. Typically in the human genome a small amount of allele variants account for ~75% of the mutations found at a particular locus within a population. Other variants found are considered to be rare or exclusive to a single pedigree. The Online Mendelian Inheritance of Man has a record of over 1000 genes and their associated allelic variants. These genes display allelic heterogeneity at their loci and are responsible for distinct disease phenotypes. Some of these diseases include alkaptonuria, albinism, achondroplasia, and phenylketonuria. For example, β-thalassemia may be caused by several different mutations in the β-globin gene. Allelic heterogeneity should not be confused with locus heterogeneity in which a mutation at a different gene causes a similar phenotype. Nor should it be confused with phenotypic heterogeneity in which a mutation within the same gene causes a different phenotype. 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.".
- Allelic_heterogeneity wikiPageID "19031099".
- Allelic_heterogeneity wikiPageLength "3685".
- Allelic_heterogeneity wikiPageOutDegree "28".
- Allelic_heterogeneity wikiPageRevisionID "661475415".
- Allelic_heterogeneity wikiPageWikiLink Achondroplasia.
- Allelic_heterogeneity wikiPageWikiLink Albinism.
- Allelic_heterogeneity wikiPageWikiLink Alkaptonuria.
- Allelic_heterogeneity wikiPageWikiLink Beta-thalassemia.
- Allelic_heterogeneity wikiPageWikiLink Beta_globin.
- Allelic_heterogeneity wikiPageWikiLink Beta_thalassemia.
- Allelic_heterogeneity wikiPageWikiLink Category:Mutation.
- Allelic_heterogeneity wikiPageWikiLink Consensus_sequence.
- Allelic_heterogeneity wikiPageWikiLink Copy-number_variation.
- Allelic_heterogeneity wikiPageWikiLink Exogenous.
- Allelic_heterogeneity wikiPageWikiLink Exogeny.
- Allelic_heterogeneity wikiPageWikiLink Genetic_drift.
- Allelic_heterogeneity wikiPageWikiLink Genetic_migration.
- Allelic_heterogeneity wikiPageWikiLink Germ_line.
- Allelic_heterogeneity wikiPageWikiLink Germline.
- Allelic_heterogeneity wikiPageWikiLink HBB.
- Allelic_heterogeneity wikiPageWikiLink Homogentisate_1,2-dioxygenase.
- Allelic_heterogeneity wikiPageWikiLink Locus_(genetics).
- Allelic_heterogeneity wikiPageWikiLink Locus_heterogeneity.
- Allelic_heterogeneity wikiPageWikiLink Mitochondrial_DNA.
- Allelic_heterogeneity wikiPageWikiLink Mitochondrial_genome.
- Allelic_heterogeneity wikiPageWikiLink Mutagen.
- Allelic_heterogeneity wikiPageWikiLink Mutation.
- Allelic_heterogeneity wikiPageWikiLink Mutations.
- Allelic_heterogeneity wikiPageWikiLink Natural_selection.
- Allelic_heterogeneity wikiPageWikiLink OMIM.
- Allelic_heterogeneity wikiPageWikiLink Online_Mendelian_Inheritance_in_Man.
- Allelic_heterogeneity wikiPageWikiLink Pedigree.
- Allelic_heterogeneity wikiPageWikiLink Phenotype.
- Allelic_heterogeneity wikiPageWikiLink Phenotypic_heterogeneity.
- Allelic_heterogeneity wikiPageWikiLink Phenylketonuria.
- Allelic_heterogeneity wikiPageWikiLink Population_genetics.
- Allelic_heterogeneity wikiPageWikiLink Single-nucleotide_polymorphism.
- Allelic_heterogeneity wikiPageWikiLink Single_nucleotide_polymorphisms.
- Allelic_heterogeneity wikiPageWikiLink Somatic_cell.
- Allelic_heterogeneity wikiPageWikiLink Somatic_cells.
- Allelic_heterogeneity wikiPageWikiLinkText "Allelic heterogeneity".
- Allelic_heterogeneity wikiPageWikiLinkText "allelic heterogeneity".
- Allelic_heterogeneity wikiPageWikiLinkText "allelic".
- Allelic_heterogeneity hasPhotoCollection Allelic_heterogeneity.
- Allelic_heterogeneity wikiPageUsesTemplate Template:Genetics-stub.
- Allelic_heterogeneity wikiPageUsesTemplate Template:Reflist.
- Allelic_heterogeneity subject Category:Mutation.
- Allelic_heterogeneity hypernym Phenomenon.
- Allelic_heterogeneity type Disease.
- Allelic_heterogeneity comment "Allelic heterogeneity is the phenomenon in which different mutations at the same locus cause a similar phenotype. These allelic variations can arise as a result of natural selection processes, as a result of exogenous mutagens, genetic drift, or genetic migration. Many of these mutations take the form of single nucleotide polymorphisms in which a single nucleotide base is altered compared to a consensus sequence.".
- Allelic_heterogeneity label "Allelic heterogeneity".
- Allelic_heterogeneity sameAs m.04jk198.
- Allelic_heterogeneity sameAs Q4731437.
- Allelic_heterogeneity sameAs Q4731437.
- Allelic_heterogeneity wasDerivedFrom Allelic_heterogeneity?oldid=661475415.
- Allelic_heterogeneity isPrimaryTopicOf Allelic_heterogeneity.