成都地区汉族人群中FABP2和F13A1的遗传多态性

GENETIC POLYMORPHISMS OF FABP2 AND F13A1 LOCI IN Han POPULATION

目的了解成都地区汉族群体中短串联重复序列ＦＡＢＰ２和Ｆ１３Ａ１的遗传多态性，获得ＦＡＢＰ２和Ｆ１３Ａ１两个基因座的群体遗传学数据。方法应用ＰＣＲ扩增技术结合聚丙烯酰胺凝胶水平电泳分型方法分别调查ＦＡＢＰ２和Ｆ１３Ａ１基因座在成都地区汉族群体中的基因型分布。结果ＦＡＢＰ２基因座在成都地区汉族群体中存在５个等位基因，基因频率分别为０．５１３，０．０９６，０．３３０，０．０５２，０．００９。杂合性为６０．８７％，基因型分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡。Ｆ１３Ａ１基因座在成都地区汉族群体中存在５个等位基因，基因频率分别为０．１２８，０．０５３，０．２８８，０．５２７，０．００４。杂合性６６．３７％，基因型分布不符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡，样本数据不能代表总体数据。结论ＦＡＢＰ２基因座的检测分型可用于法医学亲子鉴定与个人识别，Ｆ１３Ａ１基因座则不宜用于法医学亲子鉴定与个人识别。

Objective To find more STR loci usable in forensic medicine and unders tand the distri bution of the genetic polymorphisms of two STR loci FABP2 and F13A1 in the Han population in Chengdu.Methods EDTA blood specimens were collected from 115 healthy unrelated Han individuals in Chengdu, DNA was extracted using Chelex method. The DNA samples were amplified by PCR technique, and the PAGE horizontal electrophoresis was used for typing of the PCR products. Results The allele frequencies were FABP2*1∶0.513, FABP2*2∶0.096, FABP2*3∶0.330, FABP2*4∶0.052, FABP2*5∶0.009, and 10 genotypies were observed in 115 individuals for FABP2; while for F13A1, the allele frequencies were F13A1*1∶0.128, F13A1*2∶0.053, F13A1*3∶0.288, F13A1*4∶0.527, F13A1*5∶0.004 and 10 genotypes were observed in 113 individuals. The result of test for Hardy Weinberg equilibrium showed that the genotype distribution observed at FABP2 locus was correspondent with the expected. Conclusion FABP2 may be a useful marker for paternity test or personal indentification of biological stain. On the other hand, more studies need to be done to understand the polymorphism at F13A1 locus in Chinese population because a deviation from Hardy Weinberg equilibrium has been observed in this Han population.