江苏汉族人群KIR配体HLA-Cw位点基因多态性研究

目的使用序列特异性引物聚合酶链反应(PCR-SSP)法检测江苏地区汉族人群KIR配体HLA-Cw的基因多态性。方法合成10对特异性分型引物及1对内参照引物,对183例江苏地区汉族无关个体进行HLA-Cw低分辨率分型。用χ2检验对等位基因表现频率进行统计分析。结果共检出8种等位基因;HLA-Cw01～08的基因频率分别为0.17、0.01、0.19、0.07、0.00、0.11、0.15、0.11,其中HLA-Cw01、03、06、07型为常见型;有12例样本未扩增出HLA-Cw01～08等位基因型,占总人数的6.60%。经吻合度χ2检验验证,所有样本符合Hardy-Weinberg平衡(χ2=223.5,df=28,P>0.05)。第一组的HLA-Cw02、04、05、06基因频率之和(GF=0.186 9)小于第二组的HLA-Cw01、03、07、08型之和(GF=0.606 3),差异具有统计学意义(P<0.01)。结论江苏地区汉族人群HLA-Cw基因分布具有明显的不均衡性和独特的地理和人种特征。HLA-Cw01～08等位基因的分布以HLA-Cw01、03、06、07为主。

Genetic polymorphism of HLA-Cw as KIR ligands in Jiangsu Han population

Objective To study the genetic polymorphism of HLA-Cw as KIR ligands in Jiangsu Han population by polymerase chain reaction sequence-specific-primers(PCR-SSP).Methods HLA-Cw alleles of 183 unrelated bloods samples from Jiangsu Han population were genotyped by PCR-SSP.Differences of the gene frequency of HLA-Cw alleles were estimated by Chi-square test.Results Eight alleles were observed and the frequencies of HLA-Cw from 01 to 08 were 0.17,0.01,0.19,0.07,0,0.11,0.15,0.11 respectively,among which the highest frequency were HLA-Cw 01,03,06 and 07.Goodness of fit test analysis showed that the genotype distribution of HLA-Cw loci coincided with Hardy-Weinberg test(χ2=223.5,df=28,P>0.05).In 12 samples no alleles of HLA-Cw 01-08 could be detectable.The frequencies of HLA-C group 1 including HLA-Cw 02,04,05,06 were lower than those of group 2 including HLA-Cw 01,03,07,08(P<0.01).Conclusion HLA-Cw alleles in Jiangsu Han population displayed distinct distributive regularity and characteristics.The most frequent alleles were HLA-Cw 01,03,06 and 07.