S100B基因rs9722和rs2186358遗传多态性在广西人群中的分布

The distribution of the S100B gene rs9722 and rs2186358 polymorphism in Guangxi populations

目的研究星形胶质源性蛋白(S100B)基因rs9722和rs2186358遗传多态性在广西人群中的分布特征,并对比其在不同种族人群间的分布差异。方法采用单碱基延伸技术(SBE-PCR)和DNA测序法检测398例广西人群S100B基因rs9722和rs2186358位点的基因型,并与国际人类基因组单体型图计划(Hap Map)数据库中公布的欧洲人群(Hap Map-CEU)、非洲人群(Hap Map-YRI)、美国人群(Hap MapASW)和中国北京汉族人群(Hap Map-HCB)的SNP分型数据比较,分析这5个不同地区种族人群rs9722、rs2186358的基因型和等位基因频率的分布差异。结果广西人群中S100B基因rs9722、rs2186358各基因型和等位基因频率在不同性别间分布差异无统计学意义(P>0.05)。与Hap Map数据库中公布的Hap MapCEU、Hap Map-YRI、Hap Map-ASW和Hap Map-HCB的SNP分型数据比较,rs9722基因型和等位基因频率与Hap Map-CEU、Hap Map-YRI、Hap Map-ASW和Hap Map-HCB比较差异均有统计学意义(P<0.05);rs2186358基因型和等位基因频率与Hap Map-CEU、Hap Map-YRI、Hap Map-ASW比较差异有统计学意义(P<0.05),与Hap Map-HCB比较,基因型频率差异有统计学意义(P<0.05),等位基因频率差异无统计学意义(P>0.05)。结论在广西人群中存在S100B基因多态性,且与其他种族人群相比存在差异性,这种差异可能是S100B相关疾病在不同人群中发病率和临床表现存在差异的原因之一。

Objective To study the distribution characteristics of S100B gene rs9722 and rs2186358 polymor- phism in Guangxi population, and to compare the distribution differences among different ethnics. Methods Polymerase chain reaction - single base extension （ SBE - PCR） and DNA sequencing were used to detect the genotype of S100B gene among 398 individuals in Guangxi, China. The results were compared with the reported frequencies in four other popula- tions （Hap Map - CEU, Hap Map - YRI, Hap Map - ASW and Hap Map - HCB） from Human Genome Project group （Hap Map） data, to analyze the distributional differences among rs9722, rs2186358 polymorphism and alleles frequencies of five different races. Results There was no significant difference in genotype or allele frequencies of rs9722 and rs2186358 among the male and female in Guangxi population （P 〉 0. 05 ）. The genotype and allele frequency of S100B gene rs9722 in Guangxi population showed significant difference as compared with Hap Map - CEU, Hap Map - YRI, Hap Map - ASW and Hap Map - HCB （P 〈 0. 05 ）. The genotype and allele frequency of rs2186358 showed statistically signif- icant differences as compared with Hap Map - CEU, Hap Map - YRI, Hap Map - ASW （ P 〈 0.05 ）. The genotype fre- quency of rs2186358 showed significant difference as compared with Hap Map -HCB （P 〈0. 05） , however, the allele frequency Of rs2186358 showed no significant difference as compared with Hap Map - HCB （ P 〉 0. 05 ）. Conclusion The distribution of S100B gene polymorphisms in this Guangxi population is different from those in other ethnic popula- tions, and this variation might contribute for a variety of clinical manifestation and morbidity of SI00B related diseases.