West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, China.
West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, China.
Forensic Sci Int Genet. 2018 May;34:49-56. doi: 10.1016/j.fsigen.2018.01.006. Epub 2018 Jan 31.
Current research focusing on forensic personal identification, phenotype inference and ancestry information on single-nucleotide polymorphisms (SNPs) has been widely reported. In the present study, we focused on tetra-allelic SNPs in the Chinese Han population. A total of 48 tetra-allelic SNPs were screened out from the Chinese Han population of the 1000 Genomes Database, including Chinese Han in Beijing (CHB) and Chinese Han South (CHS). Considering the forensic genetic requirement for the polymorphisms, only 11 tetra-allelic SNPs with a heterozygosity >0.06 were selected for further multiplex panel construction. In order to meet the demands of personal identification and parentage identification, an additional 8 tri-allelic SNPs were combined into the final multiplex panel. To ensure application in the degraded DNA analysis, all the PCR products were designed to be 87-188 bp. Employing multiple PCR reactions and SNaPshot minisequencing, 511 unrelated Chinese Han individuals from Sichuan were genotyped. The combined match probability (CMP), combined discrimination power (CDP), and cumulative probability of exclusion (CPE) of the panel were 6.07 × 10, 0.9999999999393 and 0.996764, respectively. Based on the population data retrieved from the 1000 Genomes Project, Fst values between Chinese Han in Sichuan (SCH) and all the populations included in the 1000 Genomes Project were calculated. The results indicated that two SNPs in this panel may contain ancestry information and may be used as markers of forensic biogeographical ancestry inference.
目前，针对单核苷酸多态性（SNP）的法医个体识别、表型推断和祖先信息的研究已有广泛报道。本研究聚焦于中国汉族人群中的四等位 SNP。从 1000 基因组数据库的中国汉族人群中筛选出 48 个四等位 SNP，包括北京汉族（CHB）和中国汉族南方（CHS）。考虑到遗传多态性的法医要求，仅选择了 11 个杂合度＞0.06 的四等位 SNP 进一步构建多重扩增子panel。为了满足个体识别和亲子关系鉴定的需求，最终的多重扩增子panel 还结合了另外 8 个三等位 SNP。为确保在降解 DNA 分析中的应用，所有的 PCR 产物均设计为 87-188bp。采用多重 PCR 反应和 SNaPshot 微测序技术，对来自四川的 511 名无关汉族个体进行了基因分型。该 panel 的组合匹配概率（CMP）、组合判别能力（CDP）和累积排除概率（CPE）分别为 6.07×10-19、0.9999999999393 和 0.996764。基于从 1000 基因组计划中检索到的人群数据，计算了四川汉族（SCH）与 1000 基因组计划中包含的所有人群之间的 Fst 值。结果表明，该 panel 中的两个 SNP 可能包含祖先信息，可作为法医生物地理祖先推断的标记。
