法医学杂志Issue(2)：101-109,9.DOI:10.3969/j.issn.1004-5619.2014.02.006
X染色体上18个InDel多重PCR系统的建立
Development of an 18 X-InDel Multiplex PCR System
摘要
Abstract
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.关键词
法医遗传学/多态现象,遗传/X染色体/插入/缺失Key words
forensic genetics/polymorphism, genetic/X chromosome/Insertion/Deletion分类
社会科学引用本文复制引用
孙宽,赵书民,张素华,李成涛..X染色体上18个InDel多重PCR系统的建立[J].法医学杂志,2014,(2):101-109,9.基金项目
国家自然科学基金资助项目（81302026，81222041）；“十二五”国家科技支撑计划项目 （）
