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autosomal dominant |
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Autosomal dominant or autosomal recessive Refers to the inheritance pattern of a gene on a chromosome other than X or Y. Genes are inherited in pairs—one gene from each parent. However, the inheritance may not be equal, and one gene may overshadow the other in determining the final form of the encoded characteristic. The gene that overshadows the other is called the dominant gene; the overshadowed gene is the recessive one. Mentioned in: Cerebral Amyloid Angiopathy, Hereditary Hemorrhagic Telangiectasia, Ichthyosis, Muscular Dystrophy, Peripheral Neuropathy, Porphyrias, Prolonged QT Syndrome, Tourette Syndrome, Von Willebrand Disease, Waldenström's Macroglobulinemia autosomal dominant Genetics Referring to a mode of inheritance, in which the presence of only one copy of a gene of interest on one of the 22 autosomal–non-sex chromosomes, will result in the phenotypic expression of that gene; the
likelihood of expressing an autosomal gene in progeny is 1:2; ♂ and ♀ are affected equally. Cf Autosomal recessive, X-linked recessive. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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Limb-girdle muscular dystrophies can either be autosomal dominant (single gene defect on a chromosome from either parent or one copy of a mutant gene and one normal gene, known as type 1 LGMD) or autosomal recessive (a defect or mutation on the gene from the chromosome of each parent is needed, known as type 2 LGMD). Modifier effect of ENOS in autosomal dominant polycystic kidney disease. 1,7) Approximately 15% of cases are familial, caused by a mutation on the gene encoding the PrP, and are transmitted in an autosomal dominant pattern. |
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