A multiplex assay with 52 single nucleotide polymorphisms for human identification
A multiplex assay with 52 single nucleotide polymorphisms for human identification
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DOI：
10.1002/elps.200500671
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发表时间：
2006-05-01
期刊：
影响因子：
2.9
通讯作者：
Morling, Niels
中科院分区：
文献类型：
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作者：
Sanchez, Juan J.;Phillips, Chris;Morling, Niels
共有52个snp在欧洲、亚洲和非洲人群中被报道为多态。其中，42个来自每个常染色体的远端区域（19号染色体除外）。几乎所有选择的snp都位于距离已知基因和常用str至少100 kb的位置。我们建立了一种高灵敏度和可重复性的snp分型方法，在一次PCR反应中扩增所有52个DNA片段，然后用CE分析两个单碱基延伸反应检测snp。扩增子长度在59 ~ 115 bp之间。从500 pg DNA中获得完整的SNP谱。这52个基因座被有效地从降解样品中扩增出来，而以前只获得了部分STR谱。对来自丹麦、格陵兰、索马里、土耳其、中国、德国、台湾、泰国和日本的700名个体进行了基因分型，并估计了等位基因频率。所有52个snp在三个主要人群中均具有多态性。在所研究的种群中，平均匹配概率至少为5.0 × 10（-19）。典型的亲子关系指数从亚洲的33.6万到欧洲的54.9万不等。这项工作产生的52个SNIP位点和种群数据的详细信息可在http://www.snpforid.org上免费获得。
A total of 52 SNPs reported to be polymorphic in European, Asian and African populations were selected. Of these, 42 were from the distal regions of each autosome (except chromosome 19). Nearly all selected SNPs were located at least 100 kb distant from known genes and commonly used STRs. We established a highly sensitive and reproducible SNP-typing method with amplification of all 52 DNA fragments in one PCR reaction followed by detection of the SNPs with two single base extension reactions analysed using CE. The amplicons ranged from 59 to 115 bp in length. Complete SNP profiles were obtained from 500 pg DNA. The 52 loci were efficiently amplified from degraded samples where previously only partial STR profiles had been obtained. A total of 700 individuals from Denmark, Greenland, Somalia, Turkey, China, Germany, Taiwan, Thailand and Japan were typed, and the allele frequencies estimated. All 52 SNPs were polymorphic in the three major population groups. The mean match probability was at least 5.0 x 10(-19) in the populations studied. Typical paternity indices ranged from 336 000 in Asians to 549 000 in Europeans. Details of the 52 SNIP loci and population data generated in this work are freely available at http://www.snpforid.org.