IL-16基因23核苷酸插入/缺失在广西人群中的分布

The distribution of the IL-16 gene I/D polymorphism in Guangxi population

目的研究IL-16基因单核苷酸多态性(SNP)位点rs150605585 I/D在广西人群中的分布,并对比不同种族间IL-16插入/缺失频率分布的差别。方法采用单碱基延伸的聚合酶链反应(PCR)技术和DNA测序法检测303例广西人IL-16基因多态性,分析广西人群这个位点的基因型和等位基因的分布频率,并与人类基因组计划(HapMap)公布的欧洲人、中国北京汉族人、日本人和非洲人的基因多态性分型数据比较,分析这5类人群rs150605585插入/缺失的分布频率。结果在我国广西人群中存在IL-16基因rs150605585 I/D多态性,分别有I/I、I/D、D/D 3种基因型。与人类基因组计划(HapMap)公布的4类人群的SNP分型数据进行比较,IL-16基因rs150605585I/D与北京、日本人群的分布差异不具有统计学意义(P均>0.05);rs150605585I/D与非洲人、欧洲人相比差异具有统计学意义(P<0.05)。结论在广西地区人群中存在着IL-16基因多态性。广西人群IL-16基因多态性的分布与其他种族人群比较存在有差异,这种差异也许是与IL-16相关的疾病在不同地区人群间发病率不同的原因之一,这为我们研究基因与疾病的关系提供遗传数据支持。

To study the distribution of IL-16 gene I/D polymorphism in Chinese Guangxi population, and tocompare the distribution differences among different ethnic, polymerase chain reaction-single base extension（PCR-SBE） technique and DNA sequencing were applied to detect the insertion and deletion frequencies of IL-16 gene among 303 Chinese Guangxi population, which was then compared with other four populations（Hap Map-CEU,Hap Map-YRI, Hap Map-JPT, Hap Map-HCB） from Human Genome Project group（Hap Map） data. We found thatthere were IL-16 gene rs150605585 I/D polymorphism in Guangxi populations, including I/I, I/D, and D/Dgenotypes. The frequencies of the insertion and deletion distribution of IL-16 gene rs150605585 I/D polymorphismin Guangxi population showed significant difference as compared with Hap Map-CEU and Hap-Map-YRIpopulations（both P〈0.01）, but showed no significant deference as compared with Hap Map-JPT, Hap Map-HCB（both P〈0.05）. These differences might account for the different morbidity of IL-16 related disease among ethnics,and it may play an important role on the studies of population genetics and anthropology. These results providegenetic data for us to study the relationship between gene SNP and related diseases.