Autosomal dominant


Also found in: Acronyms.

autosomal dominant

adjective Referring to a trait or disorder that may be passed from one generation to the next when only one allele is required to pass a genetic defect to the progeny.

Examples
Achondroplasia, Huntington’s disease, Marfan syndrome, neurofibromatosis, osteogenesis imperfecta.

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.

autosomal dominant

Pert. to or characteristic of an autosomal dominant gene.
See: autosomal dominant gene

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.
References in periodicals archive ?
People with autosomal dominant PKD also can experience the following:
Cambridge, MA; 617-679-7468) announced that the United States Patent and Trademark Office has granted to Millennium and to Brigham and Women's Hospital (Boston, MA) a patent covering compositions and methods for the diagnosis of autosomal dominant polycystic kidney disease.
Chapman AB, Johnson AM, Gabow PA: Intracranial aneurysms in patients with autosomal dominant polycystic kidney disease: How to diagnose and who to screen.
The APC mutation is usually autosomal dominant, inherited from one parent who carries the abnormality.
TM] chemistry opening the doors to breakthrough advances in autosomal dominant disorders," said Joseph E.
Mutations in GATA3, a dual zinc-finger transcription factor, cause the autosomal dominant hypoparathyroidism, deafness, renal dysplasia (HDR) syndrome, and down-regulation of GATA3 results in clear cell renal cell carcinoma.
The most common form of this condition is called autosomal dominant polycystic kidney disease (ADPKD), a condition passed on to children from one parent affected with the disease that is found in 600,000 people in the United States alone.
This autosomal dominant syndrome is a marker for development of breast cancer and thyroid tumors.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leuco-encephalopathy (CADASIL) is a progressive hereditary non-atherosclerotic non-amyloid arteriopathy first described in a French pedigree, affecting young and older adult patients irrespective of traditional risk factors for stroke.
Consequently, transmission appears to be autosomal dominant because recombination occurs, but it is more correctly termed pseudo-autosomal dominant.

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