中国广西人群S100B基因rs1051169 G/C和rs9984765 T/C的多态性

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(Hap Map)数据库公布的Hap Map-具有北欧和西欧血统的犹他州人群(CEU)、Hap Map-非洲尼日利亚伊巴丹的约鲁巴人(YRI)、Hap Map-日本东京人群(JPT)和Hap Map-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Hap Map-CEU、Hap Map-YRI和Hap Map-JPT比较差异均有统计学意义(P<0. 01),与Hap Map-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Hap Map-YRI、Hap Map-JPT和Hap Map-HCB比较差异均有统计学意义(P<0. 05),与Hap Map-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。

Genetic polymorphism of rs1051169 G/C and rs9984765 T/C in S100B gene in Chinese Guangxi population

Objective To explore the distribution characteristics of S100 B 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(Hap Map-CEU,Hap Map-YRI,Hap Map-JPT,Hap Map-HCB) from Haplotype Map(Hap Map). Results There were GG,CG and CC genotypes at the rs1051169 G/C of S100 B gene in Guangxi population,with frequencies of 41. 2%,44. 7% and 14. 1%,respectively,and G and C allele frequencies were63. 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 Hap Map-CEU,Hap Map-YRI and Hap Map-JPT(P<0. 01),the allele frequency of rs1051169 G/C in Guangxi population showed significant difference as compared with Hap Map-HBC(P<0. 05),but their genotype frequencies showed no significant difference as compared with Hap Map-CEU(P>0. 05). The genotype and allele frequency of rs9984765 T/C in Guangxi population showed significant difference as compared with Hap Map-YRI,Hap MapJPT and Hap Map-HBC(P < 0. 05),there was no significant difference compared with Hap Map-CEU(P > 0. 05).Conclusion The polymorphisms of rs1051169 G/C and rs9984765 T/C in S100 B gene in Guangxi populations,and their polymorphisms are different from different races and district populations.