RAPID SCREENING METHOD FOR DETECTING MUTATIONS IN THE 21-HYDROXYLASE GENE

Impaired synthesis of adrenal steroid hormones because of steroid 21-h ydroxylase deficiency is one of the most common inborn errors of metab olism. To expedite molecular diagnosis in families with 21-hydroxylase deficiency, we have designed a rapid strategy to determine nine of th e most common mutations in the 21-hydroxylase gene. According to the m utation to be detected, we apply either of two simple strategies: dige stion with adequate restriction enzyme or use of the amplification-cre ated restriction site (ACRS) approach and subsequent restriction analy sis. Both procedures are rapid and, being nonradioactive, are safer to perform; moreover determination of zygosity in the analyzed mutations requires only one tube per mutation.