MMP14基因启动子和外显子单核苷酸多态性在广西百色地区壮族人群中的分布

摘要

Objective To study the frequencies of allele and genotype distribution of single nucleotide polymorphisms (SNPs) in the promoter region and the exon region of Membrane-type 1 matrix metalloproteinase ( MT1-MMP, MMP14) gene in Baise Cuangxi Zhuang populations, and to analyze the distributions of MMP14 polymorphism among different races. Methods The MMP14 gene three loci (rsl003349 G/T, rs3751488 A/G and rsl042704 A/G) polymorphisms were examined by single base extension methods in 624 Zhuang populations. Moreover, the genetic structure was analyzed for the Zhuang populations along with the four populations from Hapmap Ⅱ data. Results In 624 Zhuang populations, the frequencies of genotype distribution of MMP14 gene were; rsl003349 (GG 35. 4% , GT 50. 2% and TT 14. 4% ), rs3751488( AA 13. 9% , AG 47. 8% and GG 38. 3% ) and rsl042704( GG 98. 9% , AG 1. 1% and AA 0% ). The frequencies of polymorphism distribution of MMP14 gene in Guangxi Zhuang populations were significant difference from that of HapMap-CEU, Hap-Map-YRI, HapMap-JPT or HapMap-HCB populations respectively (P <0.05). Conclusions There are MMP14 gene polymorphisms in Guangxi Zhuang populations, and the frequencies of polymorphism distribution of MMP14 gene are significant difference compared with Hap-Map-YRI, HapMap-HCB, HapMap-CEU or HapMap-JPT population.%目的 研究膜型基质金属蛋白酶-1 (MMP14)基因启动子和外显子单核苷酸多态性(SNPs)各等位基因及基因型在广西百色地区壮族人群中的分布频率,比较其在不同种族间分布的差异.方法 采用Multiplex SNaPshot SNP分型技术对百色地区624例壮族个体的MMP14染色体基因组上rs1003349 G/T、rs3751488 A/G和rs1042704 A/G进行基因分型,结合Hapmap计划第二期公布的四个人群SNPs分型数据,分析这五个人群的遗传结构.结果 壮族人群MMP14的基因型分布频率为:ra1003349(GG 35.4％、GT 50.2％和TT 14.4％)、ra3751488(AA 13.9％、AG 47.8％和GG 38.3％)和rs1042704(GG 98,9％、AG 1.1％和AA 0％).MMP14基因SNPs在壮族人群的分布频率与在欧洲白人、非洲黑人、日本东京人和北京汉族人群中的相比差异有统计学意义(P＜0.05).结论 广西百色地区壮族人群中存在MMP14基因多态性,且与欧洲白人、非洲黑人、日本东京人和北京汉族人群均有显著差异的遗传成分存在.