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Rapid detection of a mutation hot-spot in the human androgen receptor
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Barnendokrinologisk forskning/Tuvemo)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Barnendokrinologisk forskning/Tuvemo)
1996 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 50, no 4, 202-205 p.Article in journal (Refereed) Published
Abstract [en]

Mutations of the human androgen receptor gene may disturb sexual development in males, and are inherited as an X-linked recessive trait. The vast majority of the mutations are familial. We have identified a large kindred with complete androgen insensitivity syndrome (CAIS) without detectable androgen-binding in genital skin fibroblasts. A single nucleotide substitution (C-to-T transition) was identified, resulting in an Arg855 to Cys in the androgen binding domain. To date, four independent CAIS families have been reported with this specific mutation that coincides with the propensity of cytosines at CpG dinucleotides to methylate. An allele-specific oligo-nucleotide assay was developed that allowed for the rapid and specific identification of this mutation hot-spot in individuals with androgen receptor insensitivity syndromes.

Place, publisher, year, edition, pages
1996. Vol. 50, no 4, 202-205 p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-59553PubMedID: 9001799OAI: oai:DiVA.org:uu-59553DiVA: diva2:87463
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-12-01Bibliographically approved

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