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Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21

✍ Scribed by Gita Ohlsson; Jørn Müller; Marianne Schwartz

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 198 KB
Volume: 13
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)13:5<385::aid-humu7>3.0.co;2-2

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✦ Synopsis

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the gene CYP21 encoding the enzyme steroid 21-hydroxylase. In addition to deletions, approximately 20 different point mutations have been reported, and still novel mutations are detected. This makes genetic diagnosis as well as carrier detection of 21-hydroxylase deficiency a complicated matter. We developed a simple nonradioactive assay based on the polymerase chain reaction (PCR) in combination with denaturing gradient gel electrophoresis (DGGE) to screen for mutations in the CYP21 gene. DGGE allows a fast scanning of PCR-amplified segments of genes for the presence or absence of any single base pair alterations. We have performed this technique on the coding sequence and intron-exon junctions of CYP21. Our results emphasize that this procedure constitutes a fast and reliable approach when performing diagnosis of 21-hydroxylase deficiency.

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