Author(s): 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)
Title: Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21- hydroxylase deficiency
Source: MOLECULAR GENETICS AND METABOLISM, 93 (4): 450-457 APR 2008 Language: English
Document Type: Article
Author Keywords: carrier frequency; gene deletion; CYP21A2; CAH; ethnic Chinese KeyWords Plus: CONGENITAL-ADRENAL-HYPERPLASIA; EHLERS-DANLOS-
SYNDROME; TENASCIN-X; RCCX MODULE; CHIMERIC CYP21P/CYP21; MOLECULAR DIAGNOSIS; PRENATAL-DIAGNOSIS; BRAZILIAN PATIENTS; MUTATION ANALYSIS;
GENE CONVERSIONS
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.
Addresses: [Lee, Hsien-Hsiung] China Med Univ, Coll Chinese Med, Taichung 404, Taiwan;
[Lee, Yann-Jinn] Mackay Mem Hosp, Dept Pediat, Tanshui 251, Taipei County, Taiwan; [Lee, Yann-Jinn] Taipei Med Univ, Coll Med, Taipei 110, Taiwan; [Wang, Yu-Mei] Changhua Christian Hosp, Dept Pediat, Gifu 500, Japan; [Chao, Hsiang-Tai] Vet Gen Hosp, Dept Obstet
& Gynecol, Taipei 112, Taiwan; [Niu, Dau-Ming] Vet Gen Hosp, Pediat Clin, Taipei 112, Taiwan; [Chao, Mei-Chyn] Kaohsiung Med Univ Hosp, Dept Pediat, Div Genet Endocrinol &
Metab, Kaohsiung 807, Taiwan; [Tsai, Fuu-Jen] China Med Univ Hosp, Dept Med Genet, Taichung 404, Taiwan; [Tsai, Fuu-Jen] Asia Univ, Dept Biotechnol & Bioinformat, Taichung 404, Taiwan; [Lo, Fu-Sung] Chang Gung Childrens Hosp, Dept Pediat, Div Endocrinol, Tao Yuan 330, Taiwan; [Lin, Shio-Jean] Natl Cheng Kung Univ, Coll Med, Dept Pediat, Tainan 704, Taiwan; [Lee, Hsien-Hsiung; Lee, Yann-Jinn] Mackay Mem Hosp, Dept Med Res, Tanshui 251, Taipei County, Taiwan
Reprint Address: Lee, HH, Mackay Mem Hosp, Dept Med Res, 45 Min Sheng Rd, Tanshui 251, Taipei County, Taiwan.
E-mail Address: [email protected]
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Publisher: ACADEMIC PRESS INC ELSEVIER SCIENCE
Publisher Address: 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2007.10.008
29-char Source Abbrev.: MOL GENET METAB ISO Source Abbrev.: Mol. Genet. Metab.
Source Item Page Count: 8
Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity; Medicine, Research & Experimental
ISI Document Delivery No.: 291XJ
