Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency

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Title:	Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
Authors:	Lee, HH (Lee, Hsien-Hsiung);Lee, YJ (Lee, Yann-Jinn);Wang, YM (Wang, Yu-Mei);Chao, HT (Chao, Hsiang-Tai);Niu, DM (Niu, Dau-Ming);Chao, MC (Chao, Mei-Chyn);Tsai, FJ (Tsai, Fuu-Jen);Lo, FS (Lo, Fu-Sung);Lin, SJ (Lin, Shio-Jean)
Contributors:	Department of Biotechnology
Keywords:	carrier frequency;gene deletion;CYP21A2;CAH;ethnic Chinese;CONGENITAL-ADRENAL-HYPERPLASIA;EHLERS-DANLOS-SYNDROME;TENASCIN-X;RCCX MODULE;CHIMERIC CYP21P/CYP21;MOLECULAR DIAGNOSIS;PRENATAL-DIAGNOSIS;BRAZILIAN PATIENTS;MUTATION ANALYSIS;GENE CONVERSIONS
Date:	2008-04
Issue Date:	2010-03-26 02:29:57 (UTC+0)
Publisher:	Asia University
Abstract:	Congenital adrenal hyperplasia (CAH) is a common amosomal recessive disorder which causes more than 90% of CAH cases due to defects in the steroid 21-hydroxylase gene (CYP21A2). The frequency of large mutations was determined in 200 ethnic Chinese (i.e., Taiwanese) CAH patients belonging to 200 families with different clinical forms of CYP21A2 deficiency over 10 years of molecular diagnoses. For a large-gene deletion (or conversion) and the CYP21A2 deletion identification, a PCR product covering the TNXB gene and the 5'-end of the CYP21A2 gene with TaqI endonuclease digestion was analyzed by electrophoresis on agarose gels. For CYP21A2 mutational analysis, secondary PCR amplification of the amplification-created restriction site method was applied. From the results of the analysis, we found that large-gene deletions (or conversions) occurred in 7.5% of the alleles including three different types of the chimeric CYP21A1P/CYP21A2 genes and the haplotype of IVS2-12A/C>G in combination with the 707-714del mutation (without the P30L mutation). The CYP21A2 deletion occurred in 2.0% of the alleles which contained three types of the chimeric TNXA/TNXB genes with two novel ones. We concluded that the CYP21A2 deletion in the ethnic Chinese (Taiwanese) patients exhibits a low occurrence, with the haplotype of the IVS2-12A/C>G in combination with the 707-714del mutation (without the P30L mutation) being prevalent among large gene deletions or conversions. (C) 2007 Elsevier Inc. All rights reserved.
Relation:	MOLECULAR GENETICS AND METABOLISM, 93 (4): 450-457
Appears in Collections:	[生物科技學系] 期刊論文

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