Inagaki Sachiyo, Yamamoto Yuji, Doi Yusuke, Takata Tomoyo, Ishikawa Takaki, Imabayashi Kiyomi, Yoshitome Kei, Miyaishi Satoru, Ishizu Hideo
Department of Legal Medicine, Graduate School of Medicine and Dentistry, Okayama University, 700-8558, Japan.
Forensic Sci Int. 2004 Aug 11;144(1):45-57. doi: 10.1016/j.forsciint.2004.03.005.
A novel 39-plex typing system for single nucleotide polymorphisms (SNPs) has been developed. This multiplex approach has the advantage of being able to type 38 autosomal SNPs and one sex-discriminating base exchange site on the X and Y chromosomes rapidly and simultaneously. The SNP loci on the autosomes, which we examined, contain 15 loci distributed on blood type genes: three on RhCE, two each on Km and Gc, and one each on Duffy, AcP1, Tf, MN, GPT, EsD, PI, and Kidd genes. Thirty-seven genomic DNA fragments containing a total of 38 SNPs and one sex-discriminating site were amplified in one multiplex PCR reaction. Following the reaction, single nucleotide primer extension reaction was performed by dividing these SNP loci into five groups. The SNP type of each of the 39 loci was determined at one time by capillary electrophoresis using the newly designed multi-injection method. The combined PD (power of discrimination) of this typing system was (1-1.1) x 10(-14), and the MEC (mean exclusion chance) was 0.9990. We applied this system to forensic cases, including 16 paternity testing cases (13 non-exclusion and three exclusion cases) and one personal identification case. For the paternity testing cases, the highest Essen-Möller's W-value was 0.9999995. The pM (matching probability) of the personal identification case was 2.22 x 10(-17). These data showed that this system was an excellent tool for use in forensic cases of paternity testing and personal identification.
一种用于单核苷酸多态性（SNP）的新型39重分型系统已经开发出来。这种多重方法的优点是能够快速且同时对38个常染色体SNP以及X和Y染色体上的一个性别区分碱基交换位点进行分型。我们检测的常染色体上的SNP位点包含分布在血型基因上的15个位点：RhCE上有3个，Km和Gc上各有2个，Duffy、AcP1、Tf、MN、GPT、EsD、PI和Kidd基因上各有1个。在一个多重PCR反应中扩增出37个包含总共38个SNP和一个性别区分位点的基因组DNA片段。反应之后，通过将这些SNP位点分成五组来进行单核苷酸引物延伸反应。使用新设计的多进样方法通过毛细管电泳一次性确定39个位点中每个位点的SNP类型。该分型系统的联合个体识别能力（PD）为(1 - 1.1)×10⁻¹⁴，平均排除率（MEC）为0.9990。我们将该系统应用于法医案件，包括16例亲子鉴定案件（13例非排除和3例排除案件）以及1例个人识别案件。对于亲子鉴定案件，最高的埃森 - 默勒氏W值为0.9999995。个人识别案件的匹配概率（pM）为2.22×10⁻¹⁷。这些数据表明该系统是用于亲子鉴定和个人识别法医案件的优秀工具。
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