【摘要】 目的探讨重庆地区汉族人群嗜铬粒蛋白A(CHGA)第7外显子区rs9658667(A/G)、rs9658668(T/C)、rs9658669(A/G)和rs729940(T/C)4个非同义单核苷酸多态性(SNP)位点的基因型及等位基因频率分布情况。方法采用聚合酶链反应、目的片段基因测序等技术对重庆地区218例汉族人的CHGA第7外显子的4个SNP位点多态性进行检测,并与其他国家和地区人群进行比较。结果 rs9658667(A/G)、rs9658668(T/C)、rs9658669(A/G)和rs729940(T/C)4个位点的最小等位基因频率分别为0.048、0.000、0.000和0.186;重庆地区人群与其他国家和地区人群比较,rs9658667(A/G)位点多态性分布存在一定差异,其突变率显著高于肯尼亚人群,差异有统计学意义(P=0.001);rs9658668(T/C)、rs9658669(A/G)位点无突变;rs729940(T/C)在4个位点中突变率最高,与尼日利亚人群比较,差异有统计学意义(P=0.000)。结论 CHGA基因第7外显子4个SNP位点多态性分布具有一定的区域特征。更多还原

【Abstract】 Objective To investigate the genotypes and allele frequency distribution situation of four non-synonymous single nucleotide polymorphisms(SNPs)loci rs9658667(A/G),rs9658668(T/C),rs9658669(A/G) and rs729940(T/C)at the7 th exon regions of chromograin A among Chinese Han population in Chongqing area. Methods The SNP of 4 loci at the 7 thexon regions of chromograin A among 218 Han nationality people of Chongqing area were detected by using polymerase chainreaction and target fragment gene sequencing techniques. Then the results were compared with those of populations in othercountries.The allele frequencies were compared with the data on NCBI on other ethnic groups.Results The minimal all elefrequencies(MAF)of rs9658667(A/G),rs9658668(T/C),rs9658669(A/G)and rs729940(T/C)were e 0.048,0.000,0.000 and 0.186,respectively;comparing the population in Chongqing area with the populations in other countries and areas,the poly-morphisms distribution of rs9658667(A/G)had a certain difference,its mutation rate was significantly higher than that in Kenya population(P=0.001);the loci of rs9658668(T/C)and rs9658669(A/G)ha dno mutation;the mutation rate of rs729940(T/C)was the highest in 4 loci,which had statistical difference compared with the Nigeria population.Conclusion The polymorphism distribution of 4 loci at the 7 th exon of Chromograin A gene has a certain regional characteristic.更多还原