Rapid screening method for detecting mutations in the 21-hydroxylase gene |
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Authors: | J Oriola I Plensa I Machuca C Pavía F Rivera-Fillat |
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Affiliation: | Servei d'Hormonologia, Hospital Clínic i Provincial de Barcelona, Spain. labhor@medicina.ub.es |
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Abstract: | Impaired synthesis of adrenal steroid hormones because of steroid 21-hydroxylase deficiency is one of the most common inborn errors of metabolism. To expedite molecular diagnosis in families with 21-hydroxylase deficiency, we have designed a rapid strategy to determine nine of the most common mutations in the 21-hydroxylase gene. According to the mutation to be detected, we apply either of two simple strategies: digestion with adequate restriction enzyme or use of the amplification-created restriction site (ACRS) approach and subsequent restriction analysis. 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. |
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