目的 探讨中国广西人群S100B基因rs1051169 G/C和rs9984765 T/C 位点遗传多态性的分布特征，并比较其与不同种族和地区人群的分布差异。 方法 采用单碱基延伸技术（SBE-PCR）和DNA测序法对398例广西体检者的S100B基因rs1051169 G/C和rs9984765 T/C位点进行基因分型，统计学分析其基因多态性的分布特征，并与国际人类基因组单体型图计划（HapMap）数据库公布的HapMap-具有北欧和西欧血统的犹他州人群（CEU）、HapMap-非洲尼日利亚伊巴丹的约鲁巴人（YRI）、HapMap-日本东京人群（JPT）和HapMap-中国北京汉族人群（HCB）4个人群的单核苷酸多态性（SNP）分型数据进行比较。 结果 广西人群S100B基因rs1051169 G/C位点存在GG、CG和CC基因型，其频率分别为41.2%、44.7%和14.1%，G和C等位基因频率分别为63.6%和36.4%。rs9984765 T/C位点存在TT、CT和CC基因型，其频率分别为47.7%、44.5%和7.8%，T和C等位基因频率分别为70.0%和30.0%。rs1051169 G/C和rs9984765 T/C位点的基因型和等位基因的分布频率差异均无统计学意义（P>0.05）。rs1051169 G/C基因型和等位基因频率与HapMap-CEU、HapMap-YRI和HapMap-JPT比较差异均有统计学意义（P<0.01），与HapMap-HCB比较，等位基因频率差异有统计学意义（P<0.05），基因型频率差异无统计学意义（P>0.05）。rs9984765 T/C位点的基因型和等位基因频率与HapMap-YRI、HapMap-JPT和 HapMap-HCB比较差异均有统计学意义（P<0.05），与HapMap-CEU比较差异无统计学意义（P>0.05）。 结论 广西人群S100B基因 rs1051169 G/C和rs9984765 T/C位点存在多态性，且其多态性与不同种族和地区人群比较存在差异。

Objective To explore the distribution characteristics of S100B gene rs1051169 G/C and rs9984765 T/C polymorphisms in Guangxi population, and to compare the distribution differences among different races and districts population. Methods Polymerase chain reaction-single base extension (SBE-PCR) and DNA sequencing were used to detect the genotype of rs1051169 G/C and rs9984765 T/C among 398 individuals in Guangxi. The results were compared with the allele and genotype of other four populations (HapMap-CEU, HapMap-YRI, HapMap-JPT, HapMap-HCB) from Haplotype Map(Hap Map). Results There were GG, CG and CC genotypes at the rs1051169 G/C of S100B gene in Guangxi population, with frequencies of 41.2%, 44.7% and 14.1%, respectively, and G and C allele frequencies were 63.6% and 36.4%, respectively. TT, CT and CC genotypes were found at rs9984765 T/C, with frequencies of 47.7%, 44.5% and 7.8%,respectively, and allele frequencies of T and C were 70.0% and 30.0%,respectively. There were no significant differences in genotype and allele frequencies of rs1051169 G/C and rs9984765 T/C among male and female in Guangxi population (P>0.05). The genotype and allele frequency of rs1051169 G/C in Guangxi population showed significant difference as compared with HapMap-CEU, HapMap-YRI and HapMap-JPT (P<0.01), the allele frequency of rs1051169 G/C in Guangxi population showed significant difference as compared with HapMap-HBC (P<0.05), but their genotype frequencies showed no significant difference as compared with HapMap-CEU (P>0.05). The genotype and allele frequency of rs9984765 T/C in Guan gxi population showed significant difference as compared with HapMap-YRI, HapMap-JPT and HapMap-HBC (P<0.05), there was no significant difference compared with HapMap-CEU (P>0.05).Conclusion The polymorphisms of rs1051169 G/C and rs9984765 T/C in S100B gene in Guangxi populations, and their polymorphisms are different from different races and district populations.