天津汉族人群18号染色体3个短串联重复序列多态性  

Polymorphisms analysis of short tandem repeat loci D18S53,D18S59,D18S488 in Tianjin Han nationality in China

作　　者：刘静[1] 张颖[1] 岳天孚[1] 

机构地区：[1]天津医科大学总医院妇产科,天津300052

出　　处：《中国现代医学杂志》2010年第8期1164-1167,共4页China Journal of Modern Medicine

摘　　要：目的调查天津地区汉族人群18号染色体上3个STR基因座D18S53、D18S59和D18S488的遗传多态性分布,获得相应的群体遗传学数据,为染色体数目异常的诊断提供实验数据。方法用定量荧光PCR对天津地区369例无血缘关系血样进行基因型分析。结果 D18S53基因座共检出14个等位基因,44种基因型。杂合度为0.767,多态信息含量为0.80,个体识别率为0.947;D18S59基因座共检出14个等位基因,41种基因型,杂合度为0.762,多态信息含量为0.73,个体识别率为0.907;D18S488基因座检出等位基因14个,34种基因型,杂合度为0.705,多态信息含量为0.65,个体识别率为0.851。结论通过吻合度检验,各等位基因型分布均符合Hardy-Weinberg平衡,说明所选369例样本可以代表天津地区汉族人群;D18S53,D18S59及D18S4883个基因座在天津汉族人群中有较高的杂合度和多态信息含量,在遗传学研究和法医学应用中有较高价值。【Objective】To investigate genetic polymorphism of D18S53,D18S59 and D18S488 in Tianjin Han nationality in China.【Methods】Using quantitative fluorescens PCR technology,we analyzed 369 unrelated samples to acknowledge the allele frequency,heterozygosity and other genetic information.【Results】14,14,14 alleles and 44,41,34 genotypes of D18S53,D18S59,D18S488 were respectively observed among the 369 unrelated individuals.The heterozygosity（H） of each STR was 0.767,0.762,0.705.The polymorphic information content（PIC） were 0.80,0.73,0.65.The power of discrimination（PD） were 0.947,0.907,0.851.【Conclusion】 D18S53,D18S59 and D18S488 were tested in 369 samples,which were tested to be statistical according to Hardy-Weinberg equilibrium（P 0.05）.D18S53,D18S59 and D18S488 have high heterozygosity and polymorphic information content,so the three loci can be used in genetic researches and in forensic medicine.

关 键 词：短串联重复序列 18号染色体 遗传多态性 等位基因 

分 类 号：R715.5[医药卫生—妇产科学] R394.5[医药卫生—临床医学]