高个体识别力通用单核苷酸多态性位点筛选及检测  

Screening and genotyping of highly informative and universally applicable single nucleotide polymorphisms for individual identification

作　　者：曾昭书[1] 王黎[2] 方宇[3] 张书红[1] 张广政[1] 郭克民[1] 

机构地区：[1]郑州大学基础医学院法医学教研室,郑州450001 [2]郑州大学基础医学院寄生虫学教研室,郑州450001 [3]郑州大学第一附属医院急诊科,郑州450052

出　　处：《郑州大学学报（医学版）》2010年第3期378-381,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：国家自然科学基金资助项目30700966;中国博士后科学基金资助项目20070420812;郑州大学引进人才专项基金资助项目2005

摘　　要：目的:在全基因组中查找能够在世界各大人群中通用的高个体识别力单核苷酸多态性(SNPs)位点,以期为SNPs应用于法医学个体识别奠定基础。方法:从国际人类基因组单体型图计划(HapMap)数据库下载270名个体各约4000000个全基因组SNPs分型数据,运用自主编写的计算机程序,按照较小等位基因频率(MAF)≥0.45的原则提取在中国北京汉族人群、日本东京人群、尼日利亚约鲁巴人群以及美国白人人群中同时存在的SNPs,以焦磷酸测序技术对其中的rs4607417和rs749305在河南汉族人群(n=144)中进行群体遗传学调查,计算Hardy-Weinberg平衡概率(HWP)、杂合度(Het)、多态信息含量(PIC)和个体识别力(DP),并与HapMap的数据(n=45)进行比较。结果:共找到1439个通用的SNPs。在河南汉族人群中,rs4607417和rs749305的HWP分别为0.872和0.423,Het分别为0.476和0.524,PIC分别为0.384和0.388,DP分别为0.616和0.612。与4个人群相比,仅在rs4607417上其等位基因频率与日本东京人群差异有统计学意义(χ2=5.068,P=0.024)。结论:rs4607417和rs749305是通用的高个体识别力SNPs;前述筛选获得的1439个SNPs具有高度可靠性和可信度,可用作在世界各人群中通用的个体识别核心SNPs。Aim：To genome-widely search for highly informative single nucleotide polymorphisms（SNPs） simultaneously existing among the world＇s major populations and to lay a basis for SNPs＇ applications on individual identification.Methods：The genotyping data of 270 individuals （about 4 000 000 SNPs per genome） were downloaded from the HapMap database. A set of computer programs was self-edited and performed to extract SNPs with minor allele frequency（MAF） ≥0.45 among the four populations：U.S. residents with northern and western European ancestry by the Centre d＇Etude du polymorphisme Humain （CEPH or CEU）,Han Chinese in Beijing （HCB）,Japanese from Tokyo（JPT） and Yoruba people of Ibadan,Nigeria （YRI）. Subsequently,a following-on assessment on two of the extracted SNPs,rs4607417 and rs749305,was carried out with increased sample size （Han Chinese in Henan,n=144） by pyrosequencing technology to confirm whether they were as informative as their HapMap HCB records （n=45） when sample size became larger.Results：A total of 1 439 SNPs were found to be shared by the four populations with MAF≥0.45. The genotyping of rs4607417 and rs749305 showed that their HWP were 0.872 and 0.423,their Het were 0.476 and 0.524,their PIC were 0.384 and 0.388,their DP were 0.616 and 0.612 among Han Chinese in Henan,respectively. No significant difference was found between our sampling and the HapMap HCB records on the allele frequencies of the two tested SNPs except for rs4607417 in JPT population（χ2=5.068,P=0.024）.Conclusion：Rs4607417 and rs749305 are highly informative.These 1 439 SNPs are highly reliable and credible for the development of a core identity-testing SNP panel among the world populations.

关 键 词：个体识别 单核苷酸多态性 rs4607417 rs749305 焦磷酸测序 

分 类 号：DF795.2[医药卫生—法医学]