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Carrier Analysis and Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in Chinese¹

Department of Medical Research (H.-H.L., J.-G.C., C.-H.T.), Division of Molecular Medicine, China Medical College Hospital, Taichung 404; Department of Obstetrics and Gynecology (H.-T.C.), Veterans General Hospital-Taipei, Taipei 112; Department of Pediatrics (Y.-J.L.), Mackay Memorial Hospital, Taipei 104; and Institute of Molecular Biology (B.-c.C., J.-M.K.), Academia Sinica, Nankang, Taipei 115, Taiwan

Address correspondence and requests for reprints to: Hsien-Hsiung Lee, Department of Medical Research, Division of Molecular Medicine, China Medical College Hospital, No. 2, Yuh Der Rd, Taichung 404, Taiwan. E-mail: hhlee{at}hpd.cmch.org.tw

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We screened 1,000 healthy people, using a previously developed differential PCR method combined with single-strand conformation polymorphism and amplification-created restriction site methods for the carrier detection of the CYP21 gene deficiency. Our results indicated that the rate of occurrence of the heterozygous CAH carrier was about 12 in 1,000, with a gene frequency of 0.0060 and an incidence frequency of 1 in 28,000 in the Chinese population. In addition, 9 cases of CAH families were performed with prenatal diagnosis. Among them, 3 cases were diagnosed as the severe form, 4 cases carried the heterozygous mutation, and 2 were normal. This is the first report of carrier frequency analysis and prenatal diagnosis of 21-hydroxylase deficiency in Chinese.

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