CAJ | 학술논문

目的：对X染色体上的插入/缺失（Insertion/Deletion，InDel）遗传标记进行研究，筛选18个基因座建立可用于中国汉族人群法医DNA鉴定的辅助分型系统。方法采用人类基因组浏览器和dbSNP数据库筛选得到18个X-InDel基因座，用Primer 3软件包设计多重复合扩增PCR引物，依据扩增片段长度分为3组，分别用FAM、HEX和TAMRA三种荧光素标记，建立多重PCR体系。对中国汉族和主要的四大少数民族（回族、维族、蒙古族和藏族）进行群体遗传学调查及对比分析。结果成功研制了一个包含18个X-InDel基因座和Amelogenin性别鉴定基因座的复合荧光多重PCR扩增体系，命名为InDel X-18PLEX系统。多态性调查显示这18个X-InDel基因座在5个主要民族中等位基因频率分布符合Hardy-Weinberg平衡，但各等位基因的频率分布差异具有统计学意义。在中国汉族人群中，该系统在女性群体和男性群体的累积个人识别率分别为0.9999994、0.99988，在三联体和二联体的累积平均排除率分别为0.999992和0.99。结论 InDel X-18PLEX系统能够满足成为法医DNA鉴定辅助性试剂盒的要求，可以成为部分疑难案件的补充分析工具。
목적：대X염색체상적삽입/결실（Insertion/Deletion，InDel）유전표기진행연구，사선18개기인좌건립가용우중국한족인군법의DNA감정적보조분형계통。방법채용인류기인조류람기화dbSNP수거고사선득도18개X-InDel기인좌，용Primer 3연건포설계다중복합확증PCR인물，의거확증편단장도분위3조，분별용FAM、HEX화TAMRA삼충형광소표기，건립다중PCR체계。대중국한족화주요적사대소수민족（회족、유족、몽고족화장족）진행군체유전학조사급대비분석。결과성공연제료일개포함18개X-InDel기인좌화Amelogenin성별감정기인좌적복합형광다중PCR확증체계，명명위InDel X-18PLEX계통。다태성조사현시저18개X-InDel기인좌재5개주요민족중등위기인빈솔분포부합Hardy-Weinberg평형，단각등위기인적빈솔분포차이구유통계학의의。재중국한족인군중，해계통재녀성군체화남성군체적루적개인식별솔분별위0.9999994、0.99988，재삼련체화이련체적루적평균배제솔분별위0.999992화0.99。결론 InDel X-18PLEX계통능구만족성위법의DNA감정보조성시제합적요구，가이성위부분의난안건적보충분석공구。
Objective To investigate Insertion/Deletion (InDel) polymorphism on the X chromosome and to screen 18 InDel loci for the Chinese Han population as a forensic DNA typing system auxiliary. Meth-ods Eighteen X-InDel markers were selected using the Human Genome Browser and dbSNP database. Multiplex PCR primer pairs of selected X-InDel markers were designed using Primer 3 software and di-vided into 3 groups according to the amplified fragment length, labeled by FAM, HEX and TAMRA fluorescence dye, respectively. The population genetics research and comparative analysis of Chinese Han nationality and 4 main minorities, the Hui, Wei, Mongol, and Tibetan nationalities, were investigated with the system. Results A new multiplex genotyping system, named InDel X-18PLEX, was successfully developed and validated, consisted of 18 X-InDel markers on the X chromosome and 1 Amelogenin gen-der marker. No deviation from Hardy-Weinberg equilibrium expectations was detected in the distribution of genotypes in the 5 investigated ethnic groups. However, there was significant difference between their distributions. From the investigation of Han nationality, high female (0.999 999 4) and male (0.999 88) overall discrimination power values were obtained, as well as high overall mean exclusion chance values in trios (0.999 992) and in duos (0.99). Conclusion InDel X-18PLEX meets the requirements as a forensic DNA complementary kit, providing effective supplementary analytical tools for difficult cases.