辽宁省汉族人群15个短联重复序列基因座的遗传多态性  

Genetic polymorphism of 15 short tandem repeat loci in Liaoning Han population

作　　者：李克研[1] 喻少波[2] 郝春雨[2] 刘海东[3] 李宁[4] 任甫[3] 温有峰[3] 席焕久[3] 

机构地区：[1]辽宁医学院附属第一医院,锦州121001 [2]沈阳市公安局刑警支队,沈阳110000 [3]辽宁医学院人类学研究所,锦州121001 [4]辽宁医学院基础学院,锦州121001

出　　处：《解剖学杂志》2010年第2期248-251,共4页Chinese Journal of Anatomy

基　　金：国家自然科学基金（30971529）;辽宁省教育厅基金（202172050,20040038）

摘　　要：目的：获得15个短串联重复序列（Short tandem repeat, STR）基因座在辽宁地区汉族人群的等位基因频率分布及群体遗传学数据.方法：调查15个STR（D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA）在141名辽宁汉族人群中等位基因频率分布.提取基因组DNA,利用多重PCR和五色荧光（6FAM、VIC、NED、PET、LIZ）自动化检测技术,获得基因分型图,然后进行统计分析,获得15个STR基因座等位基因频率及群体遗传学指标.结果：15个STP在辽宁地区汉族人群中具有较高的遗传多态性,15个STR基因座分别检测到5～16种等位基因,共136个,频率分布在0.0035～0.5248之间,DP值在0.7896～0.9528之间,H值在0.6225～0.8534之间,PIC值在0.6140～0.8480之间,EPP值在0.4324～0.8281之间,累积个体鉴别力为0.99999999,累积非父排除率为0.99999999.结论：15个STR位点适合作为辽宁地区汉族人群的遗传标记,用于人类学、疾病连锁分析、法医学亲子鉴定和个体识别等领域的研究.Objective： To acquire the allele frequency and population genetic data of fifteen short tandem repeat （STR） loci in Liaoning Han population. Methods： To investigate the genotype and allele frequency distribution of 15 STR loci （D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA） in 141 Liaoning Han population. Genome DNA was extracted, and then PCR amplification was multiplexed using five fluorochromes （6FAM, VIC, NED, PET, LIZ）. The allele frequency and genetic indexes of the 15 STR were obtained. Results： In Liaoning Han population, the 15 STR were detected 5-16 alleles （total 136） with a frequency of 0. 003 5-0. 524 8. DPs of 15 STR loci was 0. 789 6-0. 952 8, Hs was 0. 622 5-0. 853 4, PICs was 0. 614 0-0. 848 0, and EPPs was 0. 432 4- 0. 828 1. The cumulate DP of 15 STR was 0. 999 999 99 and the cumulate EPP was 0. 999 999 99. Conclusion： These 15 STR loci have highly polymorphism, and the 15 STR loci could be used as the genetic markers of Liaoing Han population in anthropological studies, linkage analysis of genetic diseases, individual identification and paternity testing in forensic medicine.

关 键 词：短串联重复序列 多重聚合酶链式反应 多态性 汉族 辽宁 

分 类 号：R394[医药卫生—医学遗传学]