MMP14基因单核苷酸多态性在广西百色地区壮族人群中的分布  

Distribution of MMP14 gene single nucleotide polymorphisms in the Zhuangs in Baise Guangxi province

作　　者：周庆辉[1] 林朝文[1] 王金花[1] 杨园园[1] 

机构地区：[1]右江民族医学院人体解剖学教研室人类学研究所,广西百色533000

出　　处：《解剖学研究》2012年第1期26-29,共4页Anatomy Research

基　　金：国家自然科学基金(30860117);广西科技计划项目(桂科攻0898004)

摘　　要：目的研究膜型基质金属蛋白酶-1(membrane-type 1 matrix metalloproteinase,MT1-MMP或MMP14)基因单核苷酸多态性(single nucleotide polymorphisms,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。方法采用Multiplex SNaPshot SNP分型技术对百色地区624例壮族个体的MMP14染色体基因组的3个SNP进行基因分型。结合HapMap4个人群(HapMap-CEU、HapMap-YRI、HapMap-JPT和HapMap-HCB)的SNPs分型数据,分析这5个人群的遗传结构。结果壮族人群MMP14的基因型分布频率为:rs2269213(CC 55.4%、CA 39.2%和AA 5.4%)、rs2236303(CC 25.2%、CT50.8%和TT 24.0%)和rs743257(CC 37.0%、CT 48.7%和TT 14.3%)。MMP14基因SNPs在壮族人群的分布频率与HapMap-CEU、HapMap-YRI和HapMap-JPT的差异有统计学意义(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HapMap-CEU、HapMap-YRI和HapMap-JPT有差异的遗传成分存在,这种差异对人类学研究可能起重要的作用。Objective To study the frequencies of allele and genotype distribution of membrane-type 1 matrix metalloproteinase（MT1-MMP or MMP14） gene single nucleotide polymorphisms（SNPs） in Baise Guangxi Zhuang populations.Methods The MMP14 gene three loci（rs2269213 C/A,rs2236303 C/T and rs743257C/T） polymorphisms were examined by the single base extension methods in 624 Zhuang populations.Results In 624 Zhuang populations,the frequencies of genotype distribution of MMP14 gene were： rs2269213（CC 55.4%,CA 39.2% and AA 5.4%）,rs2236303（CC 25.2%,CT 50.8% and TT 24.0%） and rs743257（CC 37.0%,CT 48.7% and TT 14.3%）.The frequencies of polymorphism distribution of MMP14 gene in Guangxi Zhuang populations were significant difference from that of HapMap-CEU,HapMap-YRI or HapMap-JPT populations respectively（P0.05）.Conclusion The results suggested that there are MMP14 gene polymorphisms in Guangxi Zhuang population,and the frequencies of polymorphism distribution of MMP14 gene were significant difference compared with HapMap-YRI,HapMap-CEU or HapMap-JPT population.The differences might play an important role for anthropological research.

关 键 词：膜型基质金属蛋白酶-1 壮族 单核苷酸多态性 广西 

分 类 号：R394[医药卫生—医学遗传学]