文章摘要
陈 峰.DNA微单倍型的研究现状、挑战与展望[J].南京医科大学学报,2020,(8):1081~1084
DNA微单倍型的研究现状、挑战与展望
Research progress,challenge and prospect of DNA microhaplotype
投稿时间:2020-02-29  
DOI:10.7655/NYDXBNS20200801
中文关键词: 微单倍型  祖源推断  个人识别  亲权鉴定
英文关键词: microhaplotype  ancestry inference  personal identification  paternity testing
基金项目:国家自然科学基金(81922041,81801879);江苏省自然科学基金杰出青年基金项目(BK20170048);江苏省特聘教授计划
作者单位
陈 峰 南京医科大学基础医学院法医学系江苏 南京 211166 
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中文摘要:
      法医DNA在刑事侦查中发挥不可替代的作用,面对日益复杂的作案方式,法医DNA面临多重挑战,寻找有效的新型法医DNA遗传标记具有重要的应用价值和科学意义。微单倍型(microhaplotype)是一种新型法医遗传标记,它是长度较短、包含2个以上单核苷酸多态性(single nucleotide polymorphism,SNP)位点的多态性基因座,兼有短串联重复序列(short tandem repeat,STR)和SNP的优点,具备较高多态性和极低突变率。最新研究发现其在祖源推断、个人识别、亲权鉴定等方面具有独特优势,尤其是在混合DNA分析、降解或微量检材检测中具备巨大潜力。文章对微单倍型的概念、特点、研究进展、挑战及展望等进行介绍,希望其将来在法医学应用中发挥更大的作用。
英文摘要:
      The analysis of forensic DNA plays an irreplaceable role in criminal investigation. Forensic DNA identification is facing challenges while dealing with complex cases. The discovery of novel genetic markers for multiple forensic purposes exhibits important application value and scientific significance. Microhaplotype is a type of novel genetic marker,which is defined by two or more closely linked single nucleotide polymorphisms(SNPs)within a short length of DNA fragment. Thus,the multiple allelic combination of SNPs leads to high polymorphism of microhaplotype. It combines strengths of short tandem repeat(STR)and SNP,with relatively high polymorphism and extremely low mutation rate,while applied in forensic identification. Recent researches reveal that microhaplotype possesses unique advantages in ancestry inference,personal identification and paternity testing,as well as great potential in unbalanced DNA mixture analysis and degraded or trace DNA detection. This review summarized the concepts and characteristics,retrospected the research achievements and discussed the challenges in the application of microhaplotype,aiming at exploring a brighter future of microhaplotype in forensic application.
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