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首页> 外文期刊>Genomics >Systematic polymorphism analysis of the CYP2D6 gene in four different geographical Han populations in mainland China.
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Systematic polymorphism analysis of the CYP2D6 gene in four different geographical Han populations in mainland China.

机译：CYP2D6基因在中国大陆四个不同地理区域的汉族人群的系统多态性分析。

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摘要

In this study, we systematically screened the polymorphisms of the whole CYP2D6 gene in the populations of four different geographical locations in China, namely, Shanghai, Shantou, Shenyang, and Xi'an, using a sample of 100 subjects from each population. Forty-eight different polymorphisms were detected as well as 12 novel ones. One novel nonsynonymous SNP was detected, and one novel intronic SNP was revealed that might inactivate a cryptic donor site 392 nucleotides downstream of the exon 6 natural donor site. In addition, the frequencies of some polymorphisms and alleles demonstrated significant differences among the four populations. Linkage disequilibrium analysis and tag SNP selection were performed separately for each population. Haplotypes were analyzed within the selected tag SNPs. Tag SNP selection and haplotype distributions showed differences across the four populations. This is the first large-scale study to analyze polymorphisms systematically across the whole CYP2D6 gene in the Chinese Han population.
机译：在这项研究中，我们系统地筛选了CYP2D6基因在中国四个不同地理位置的人群中的多态性，分别是上海，汕头，沉阳和西安，每个人群中有100名受试者。检测到四十八个不同的多态性，以及十二个新的多态性。检测到一种新的非同义SNP，并发现一种新的内含子SNP可能使外显子6自然供体位点下游392个核苷酸的隐性供体位点失活。此外，一些多态性和等位基因的频率显示出四个群体之间的显着差异。对每个人群分别进行连锁不平衡分析和标签SNP选择。在所选标签SNPs内分析单倍型。标签SNP选择和单倍型分布显示出四个群体之间的差异。这是首次大规模分析中国汉族人群整个CYP2D6基因多态性的研究。

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