FUT2/01基因座在中国北方汉族人群中的多态性

Polymorphic Distribution of FUT2/01 in Northern Han Chinese Population

目的调查STR基因座FUT2/01在中国人群中的基因结构特征及其在中国人群中的多态性分布特点,并对其法医学应用前景进行探讨。方法应用PCR方法扩增FUT2/01基因,DNA测序确定所有等位基因的序列;常规聚丙烯酰胺凝胶电泳调查中国人群中FUT2/01基因座的多态性分布,同时应用荧光标记引物进行自动化检测分析和基因型鉴定。结果DNA测序结果仅显示核心序列的重复数目变化所导致的长度差异;在所调查的中国汉族人群162例个体中共发现9种等位基因和28种基因型,系统的个体识别率为0.9639,父权排除率为0.6266。此外,荧光标记引物经自动化检测可对该基因座进行良好的分型。结论FUT2/01基因座在中国汉族人群中表现出高度的杂合性和个体特异性,在法医学鉴定中具有较高的应用价值。

Objective To investigate the sequence features of FUT2/01 locus and its polymorphic distribution in Chinese population, and to discuss its application potential in forensic medicine. Methods The alleles on FUT2/01 locus were amplified by PCR and then were sequenced. Furthermore, polymorphic distribution of the locus was analyzed by polyacrylamide gel electrophoresis. The genotypes were characterized with fluorescence labeling followed by automatic detection system. Results The sequencing results only showed the length differences which were determined by the tandem repeats variance of the core sequence. There were 9 alleles and 28 genotypes identified from 162 individuals. The discrimination power and excluding probability of paternity were 0.963 9 and 0.626 6, respectively. In addition, the locus could be genotyped by automatic analysis very well. Conclusion The FUT2/01 locus exhibits high heterozygosity and individual identification power in Chinese Han population, and may be a valuable STR system for application in forensic medicine.