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[摘要] In his letter, Lee questions our classification of a group of large CYP21A2 1 (cytochrome P450, family 21, subfamily A, polypeptide 2) deletion alleles into a new CH-8 designation because of concern that the CH-8 group we described may be the CYP21A1P (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene) gene itself, owing to a lack of further analysis of the 3′ end sequence of the CYP21 genes and the region overlapping with the TNXB gene. We argue that CH-8 is a useful chimeric classification. Although the exact junction sites were not determined, those for these CH-8 alleles were downstream of R356W, which is the very last determined CYP21A1P -specific mutation at the 3′ end of the CYP21 genes.In our study (1), we found 22 CH-8 alleles that carried the full range of CYP21A1P -specific common mutations. As Lee suggests, CH-8 alleles may represent chimeric TNXA …
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[效力级别]  [学科分类] 过敏症与临床免疫学
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