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[43重单核苷酸多态性分型系统的建立及其法医学应用]

[Establishment of 43-plex SNP Typing System and Its Forensic Application].

作者信息

Li Y N, Li M, Jiang L, Luan X H, Liang N, Xu Q N, Zhang J S, Tang M C, Bian Y N, Chen L Q

机构信息

School of Basic Medicine, Inner Mongolia Medical University, Hohhot 010030, China.

Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China.

出版信息

Fa Yi Xue Za Zhi. 2018 Apr;34(2):126-131. doi: 10.3969/j.issn.1004-5619.2018.02.004. Epub 2018 Apr 25.

Abstract

OBJECTIVES

To evaluate the application of 43-plex SNP typing system in forensic science.

METHODS

The typing of 43 SNP loci in 123 unrelated Han individuals from East China was detected by MALDI-TOF-MS. The application value of 43-plex SNP typing system was assessed according to the forensic parameters of population genetics.

RESULTS

All the 43 SNP loci of 123 individuals showed no significant departure from Hardy-Weinberg equilibrium (>0.05). Excepted rs1355366, rs2270529, rs10776839 and rs938283, there were 39 SNP loci had minor allele frequencies (MAF), which were greater than 0.25. Among the 25 loci MAFs, 24 ranged from 0.4 to 0.5, while 3 were close to 0.4. The DP, CDP, PIC, Ho, PE and PE of the 43 SNP loci were 0.290 1-0.654 4, 1-9.8×10⁻¹¹, 0.170 8-0.500 0, 0.155 7-0.593 5, 0.085 4-0.250 0 and 0.014 6-0.125 0, respectively. The CPE and CPE were 0.999 986 and 0.992 436 1, respectively.

CONCLUSIONS

The 43-plex SNP typing system in present study shows a high polymorphism, which can be an effective supplement and verification for traditional STR genetic markers. It also can be used with other commercial kits for the forensic paternity testing and individual identification.

摘要

目的

评估43重SNP分型系统在法医学中的应用。

方法

采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)检测华东地区123名无血缘关系汉族个体的43个SNP位点分型。根据群体遗传学的法医学参数评估43重SNP分型系统的应用价值。

结果

123名个体的43个SNP位点均未显著偏离哈迪-温伯格平衡(>0.05)。除rs1355366、rs2270529、rs10776839和rs938283外,其余39个SNP位点的次要等位基因频率(MAF)大于0.25。在25个位点的MAF中,24个在0.4至0.5之间,3个接近0.4。43个SNP位点的DP、CDP、PIC、Ho、PE和PE分别为0.290 1 - 0.654 4、1 - 9.8×10⁻¹¹、0.170 8 - 0.500 0、0.155 7 - 0.593 5、0.085 4 - 0.250 0和0.014 6 - 0.125 0。CPE和CPE分别为0.999 986和0.992 436 1。

结论

本研究中的43重SNP分型系统具有高度多态性,可作为传统STR遗传标记的有效补充和验证手段。它也可与其他商业试剂盒一起用于法医学亲子鉴定和个体识别。

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