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Use of PCR-Based Amplification Analysis as a Substitute for the Southern Blot Method for CYP21 Deletion Detection in Congenital Adrenal Hyperplasia

¹ King Car Food Industrial Co., Yuan-Shan Research Institute, Taiwan, Republic of China;² Department of Pediatrics, Mackay Memorial Hospital, and College of Medicine, Taipei Medical University, Taiwan, Republic of China

^aaddress correspondence to this author at: King Car Food Industrial Co., Ltd., Yuan-Shan Research Institute, No. 326 Yuan Shan Rd., Sec. 2, Yuan Shan, Ilan 264, Taiwan, ROC; fax 886-3-9228030, e-mail hhlee@ms2.kingcar.com.tw

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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder caused mainly by defects in the steroid 21-hydroxylase gene (CYP21). The defective CYP21 genes in CAH fall into one of three categories: (a) small-scale conversions from CYP21P; (b) spontaneous mutations; and (c) chimeric RCCX modules that include the chimeric CYP21P/CYP21 gene (1) and the chimeric TNXA/TNXB gene (2)(3)(4). The RCCX module in chromosome 6p21.3 of the human MHC class III region is composed of a part of the RP gene (serine/threonine nuclear protein kinase) (5), a full-complement C4 gene, a full CYP21(P) gene, and a portion of the TNX gene (6)(7). The C4 protein is coded by two genes, C4A and C4B. The occurrence of a long (20.4 kb) or short (14.1 kb) C4 gene is attributable to the presence of an endogenous retroviral sequence (6.7 kb), namely HERV-K (C4), in intron 9 (8). The TNX gene contains XA (TNXA) and TNXB. TNXB, in the downstream CYP21 gene, is partially duplicated in the downstream CYP21P gene, where a truncated gene is termed TNXA. Both TNXA and TNXB are transcribed on the opposite strand. There are two RP genes, RP1 and RP2. The RP2 gene is truncated and corresponds to RP1 adjacent to TNXA. These genes are arranged in the RP1-C4A-CYP21P-XA-RP2-C4B-CYP21-TNXB gene sequence and are designated as the bimodule of RCCX (Fig. 1A ).

View larger version (55K): [in this window] [in a new window]   Figure 1. Bimodular form (RP1-C4A-CYP21P-XA-RP2-C4B-CYP21-TNXB) of the RCCX region of chromosome (Chr.) 6p21.3 (A), and analysis of the 11 357-bp PCR product digested with different restriction enzymes on a 0.8% agarose gel (B). (A), represents the structure of the wild-type gene, whereas . . . [Full Text of this Article]

The following articles in journals at HighWire Press have cited this article:

				S. Parajes, C. Quinterio, F. Dominguez, and L. Loidi A Simple and Robust Quantitative PCR Assay to Determine CYP21A2 Gene Dose in the Diagnosis of 21-Hydroxylase Deficiency Clin. Chem., September 1, 2007; 53(9): 1577 - 1584. [Abstract] [Full Text] [PDF]