摘要
目的调查2个新的多拷贝基因座DYF403S1和DYF404S1在240例河南汉族群体无关男性个体中的遗传多态性,评价其法医学应用价值。方法用6-FAM荧光染料标记引物,PCR扩增产物采用ABI 3500遗传分析仪检测,根据分型检测结果,分别对2个基因座的不同等位基因进行序列分析。结果 DYF403S1基因座为4拷贝,该基因座包含2种核心序列并表现出2种不同的基序,等位基因分别为23~33、38~53。DYF404S1基因座为双拷贝,等位基因为11~18。本研究中2个多拷贝基因座组成的联合单体型共229种,出现最多的单体型为26-28-29-48/14-15,频率是0.016 7,仅出现1次的单体型共220种,占91.67%。单体型多样性（HD）和个体识别力（DP）分别为0.999 6和0.995 4,单体型辨别能力（DC）为0.954 2。结论 2个多拷贝基因座DYF403S1和DYF404S1在河南汉族群体中具有较高的遗传多态性。
Objective To investigate genetic polymorphism of two new multi-copy locus DYF403S1 and DYF404S1 among 240 unrelated males in Henan Han population and to evaluate the forensic application of the two loci. Methods The primers amplified two multi-copy loci were labeled with 6-FAM florescent.PCR products were detected on ABI 3500 genetic analyzer,and different alleles of two multi-copy loci were sequenced respectively. Results DYF403S1 locus contained 4 copies on Y chromosome,and its motifs included two core sequences and showed two different structures. The variation of alleles of DYF403S1 ranged between 23- 33 and 38- 53,respectively. The DYF404S1 locus contained two copies,the alleles were from 11 to 18. Total 229 different haplotypes of two multi-copy loci were observed among 240 unrelated males. Out of them,220 types were detected only once and the frequency was 0. 916 7. The most frequent haplotype was 26-28-29-48 /14-15 and the frequency was 0. 016 7,The haplotype diversity（ HD） of two multi-copy loci was 0. 999 6,and the discriminating power（ DP） and the discrimination capacity（ DC）were 0. 995 4 and 0. 954 2,respectively. Conclusion These results indicated the two new multi-copy loci of DYF403S1 and DYF404S1 were highly polymorphic in Henan Han population.
出处
《中国法医学杂志》
CSCD
2015年第2期148-151,155,共5页
Chinese Journal of Forensic Medicine
基金
河南省教育厅自然科学基金项目(13A310849)
新乡医学院培育基金重点项目(2013ZD114)
新乡医学院2013年研究生科技创新重点项目(YJSCX201301Z)
