中国汉族人群DC-SIGN和DC-SIGNR基因遗传多态性  

Analysis of DC-SIGN and DC-SIGNR genetic polymorphism in Chinese Han population

作　　者：王辉[1] 胡亚冬[2] 王春慧 董晓梅[2] 李丽雄[1] 刘赴平 晏路标[2] 周平[2] 童新灯[1] 施玲玲[2] 肖昕[2] 朱托夫 周伯平[1] 

机构地区：[1]广东省深圳市东湖医院艾滋病研究室 [2]暨南大学医学院艾滋病基因与疫苗研究开发中心 [3]Department of Laboratory Medicine,University of Washington School of Medicine,WA 98195,U.S.A [4]东莞中心血站

出　　处：《中华医学遗传学杂志》2006年第4期466-469,共4页Chinese Journal of Medical Genetics

基　　金：美国华盛顿大学CFAR基金(3P30AI27757-18S3);深圳市2005科技计划重点项目(JH200505270384A)

摘　　要：目的了解中国汉族人群DC-SIGN和DC-SIGNR基因颈区重复序列的遗传多态性分布,获得相应位点的汉族人群的遗传学数据。方法应用PCR技术、琼脂糖凝胶电泳结合测序对DC-SIGN和DC-SIGNR基因的颈区重复序列分型,计算DC-SIGNR的多态信息含量。结果DC-SIGN多态性低,颈区绝大多数为等位基因7重复,该等位基因频率为0.9808,但亦检出少量的等位基因4、5、6、8等变异,而美国白人只含有等位基因6、8变异;DC-SIGNR存在高度多态性,多态信息含量为0.5312,存在4、5、6、7、8、9等位基因,检出16种基因型。6/5、7/4、7/5、7/6、7/7、9/5、9/7、9/9基因型和5、6、7、9等位基因频率在中国汉族人群和美国白人中的分布构成差异有统计学意义(P<0.01),与美国白人比较,中国汉族人群似乎存在更多的插入突变。结论中国汉人的DC-SIGN和DC-SIGNR基因型分布和基因频率与美国白人相比其差异有统计学意义,并有其独特的群体遗传学特征。Objective To understand the genetic polymorphism of DC-SIGN＇s and DC-SIGNR＇s neck regions in normal Chinese Han population, and to obtain the genetic data of the two loci in Chinese Han population. Methods The genotypos and alleles of repeat sequences of DC-SIGN and DC-SIGNR neck region were typed by PCR, agarose gel electrophoresis and sequencing. Polymorphism information content （PIC） of DC-SIGNR was calculated. Results DC-SIGN genetic polymorphism was rare. Allele 7 was most and its frequency was 0.9808.4-,5-,6-and 8- alleles were also found, although their frequencies were very low. Caucasians had only 6- and 8-allele mutants; DC-SIGNR genetic polymorphism was high, its PIC was 0.5312, 4-, 5-, 6-, 7-, 8-, 9- alleles and 16 genotypes were found in normal Chinese Han population. The differences of 6/5,7/4,7/5,7/6,7/7,9/5,9/7,9/9 genotypos distribution and 5-, 6-, 7-, 9- alleles frequency between normal Chinese Han population and Caucasian population were all extremely distinct （ P 〈 0.01 ）. The inserted mutation seemed more in Chinese Hans than Caucasian population. Conclusion DC-SIGN and DC-SIGNR genotypos and alleles distribution in Chinese Han population are significantly different from Caucasian population and with Chinese own population genetic characteristics, compared with Caucasians.

关 键 词：DG-SIGN基因 DC-SIGNR基因 遗传多态性 基因频率 中国汉族人群 

分 类 号：R394[医药卫生—医学遗传学]