Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 中醫學院 > 中醫學系暨碩博班 > 期刊論文 > Item 310903500/2998

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题名:	Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module
作者:	李賢雄(Hsien-Hsiung Lee)*
贡献者:	中醫學院中醫學系學士班中醫方藥學科
日期:	2005-01
上传时间:	2009-08-20 17:58:21 (UTC+8)
摘要:	Two types of chimeric RCCX modules found in chromosome 6p21.3 are the chimeras CYP21P/CYP21 and TNXA/TNXB. The CYP21P-specific sequence of chimera CYP21PICYP21 has the 5'-end in common, but differs in the 3'-end of CYP21-specific genes. The sequence organization of the gene array is C4A-CYP21P/CYP21-TNXB, whereas chimera TNXA/TNXB is caused by a CYP21 deletion, and a partial TNXB replaced by the TNXA gene shows the C4A-CYP21P-TNXA/TNXB sequence. Therefore, chimeras CYP21PICYP21 and TNXA/TNXB are two distinct hybrid genes produced in the RCCX module in HLA class III. In addition, the haplotype of CYP21 with chimera CYP21PICYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAR (C) 2004 Elsevier Inc. All rights reserved.
關聯:	MOLECULAR GENETICS AND METABOLISM84(1):4~8
显示于类别:	[中醫學系暨碩博班] 期刊論文

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