A multiplex assay with 52 single nucleotide polymorphisms for human identification

被引:355
作者
Sanchez, Juan J.
Phillips, Chris
Borsting, Claus
Balogh, Kinga
Bogus, Magdalena
Fondevila, Manuel
Harrison, Cheryl D.
Musgrave-Brown, Esther
Salas, Antonio
Syndercombe-Court, Denise
Schneider, Peter M.
Carracedo, Angel
Morling, Niels
机构
[1] Univ Copenhagen, Inst Forens Med, Dept Forens Genet, DK-2100 Copenhagen, Denmark
[2] Univ Santiago de Compostela, Inst Legal Med, Santiago De Compostela, Spain
[3] Johannes Gutenberg Univ Mainz, Inst Legal Med, D-6500 Mainz, Germany
[4] Barts & London Queen Marys Sch Med & Dent, Ctr Haematol, ICMS, London, England
关键词
autosomes; human identification; multiplex PCR; single base extension; single nucleotide polymorphism;
D O I
10.1002/elps.200500671
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:1713 / 1724
页数:12
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