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基于SNaPshot的法医SNP基因分型:新型内部SBE多重SNP检测方法的开发

Forensic SNP Genotyping with SNaPshot: Development of a Novel In-house SBE Multiplex SNP Assay.

作者信息

Zar Mian Sahib, Shahid Ahmad Ali, Shahzad Muhammad Saqib, Shin Kyoung-Jin, Lee Hwan Young, Lee Sang-Seob, Israr Muhammad, Wiegand Peter, Kulstein Galina

机构信息

Center for Synthetic Biology Engineering Research (CSynBER), Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, 1068 Xuevuan Avenue, Shenzhen University Town, Shenzhen, China.

National Lab and CAS Center of Excellence for Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing, 100101, China.

出版信息

J Forensic Sci. 2018 Nov;63(6):1824-1829. doi: 10.1111/1556-4029.13783. Epub 2018 Apr 10.

Abstract

This study introduces a newly developed in-house SNaPshot single-base extension (SBE) multiplex assay for forensic single nucleotide polymorphism (SNP) genotyping of fresh and degraded samples. The assay was validated with fresh blood samples from four different populations. In addition, altogether 24 samples from skeletal remains were analyzed with the multiplex. Full SNP profiles could be obtained from 14 specimens, while ten remains showed partial SNP profiles. Minor allele frequencies (MAF) of bone samples and different populations were compared and used for association of skeletal remains with a certain population. The results reveal that the SNPs of the bone samples are genetically close to the Pathan population. The findings show that the new multiplex system can be utilized for SNP genotyping of degraded and forensic relevant skeletal material, enabling to provide additional investigative leads in criminal cases.

摘要

本研究介绍了一种新开发的内部SNaPshot单碱基延伸(SBE)多重分析法,用于新鲜和降解样本的法医单核苷酸多态性(SNP)基因分型。该分析法在来自四个不同人群的新鲜血液样本上进行了验证。此外,共对24份骨骼遗骸样本进行了多重分析。14个样本可获得完整的SNP图谱,而10个样本显示出部分SNP图谱。比较了骨样本和不同人群的次要等位基因频率(MAF),并用于将骨骼遗骸与特定人群进行关联。结果表明,骨样本的SNP在基因上与普什图人群接近。研究结果表明,新的多重系统可用于降解的法医相关骨骼材料的SNP基因分型,能够为刑事案件提供额外的调查线索。

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