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Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis

Lookup NU author(s): Professor Majlinda LakoORCiD, Professor Tom Strachan

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Abstract

21-Hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result from sequence exchanges involving the duplicated units. We now describe a comprehensive survey of CYP21 mutations in the British population, encompassing a screen for 17 different mutations in a total of 284 disease chromosomes. The most common mutations were as follows: large scale deletions/conversions (45% of the affected chromosomes), the intron 2 splice mutation (30.3%), R357W (9.8%), and I172N (7.0%). Mutations were detected in over 92% of the chromosomes examined, suggesting that accurate DNA based diagnosis is possible in most cases using the described strategy. In order to extend highly accurate prenatal diagnosis to all families where samples are available from a previously affected child, we have developed a linkage analysis approach using novel, highly informative microsatellite markers from the class III HLA region.

Publication metadata

Author(s): Strachan T; Lako M; Ramsden S; Campbell RD

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 1999

Volume: 36

Issue: 2

Pages: 119-124

Print publication date: 01/02/1999

ISSN (print): 0022-2593

ISSN (electronic):

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/jmg.36.2.119

DOI: 10.1136/jmg.36.2.119

PubMed id: 10051010

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