中国新疆地区维吾尔族人群杀伤细胞免疫球蛋白样受体基因多态性研究

Polymorphism of killer cell immunoglobulin-like receptor genes in Xinjiang Uygur population of China

背景:研究发现,杀伤细胞免疫球蛋白样受体基因具有遗传多态性,不同个体和NK细胞克隆表达不同的杀伤细胞免疫球蛋白样受体库。目的:分析新疆维吾尔族人群杀伤细胞免疫球蛋白样受体基因多态性及基因型和单倍型特点。方法:采用序列特异性引物PCR方法检测84名新疆维吾尔族志愿者杀伤细胞免疫球蛋白样受体基因频率,采用Hsu等的标准进行基因型和单倍型分析。结果与结论:①共检测已知的16个杀伤细胞免疫球蛋白样受体基因,其中3DL3、2DL4、3DL2基因存在于所有个体;2DL1、3DP1、2DP1、2DL3基因较为常见;其次为2DS4、3DL1、2DL5、2DS2、2DL2、2DS1、2DS5、3DS1;而2DS3基因频率最低。②共检测19种基因型,其中以AJ(2,2)、AH(5,2)和M(2,8)型较常见,频率分别为25.00%,10.71%和10.71%,其次为P(2,17)、AI(1,5)、H(2,4)和C(5,3),频率为9.52%,5.95%。5.95%和4.76%;比对发现U(17,21)、T(8,8)基因型共4例在国内文献汉族人群中未见报道。③共检出11种单倍型,最常见单倍型2占48.7%,其次是单倍型5,占15.8%;另外,发现有3种新基因型,且无法根据现有相关文献标准进行单倍型分析。表明新疆维吾尔族人群具有其独特的杀伤细胞免疫球蛋白样受体基因频率、基因型频率和单倍型频率分布,并有可能存在新的基因型和单倍型。

BACKGROUND：Studies have found that killer cell immunoglobulin-like receptor（KIR） gene has genetic polymorphism.Different individuals and NK cells express different banks of KIR gene.OBJECTIVE：To study the genotypes,haplotypes and polymorphism of KIR gene in Xinjiang Uygur population of China.METHODS：Gene frequency of KIR gene from 84 volunteers in Xinjiang Uygur population was detected by using sequence-specific primer PCR method.The genotypes and haplotypes were analyzed by Hsu standard.RESULTS AND CONCLUSION：①Totally 16 known KIR genes were detected.3DL3,2DL4 and 3DL2 were expressed in all the individuals;the most common genes were 2DL1,3DP1,2DP1 and 2DL3;the following were 2DS4,3DL1,2DL5,2DS2,2DL2,2DS1,2DS5 and 3DS1;the 2DS3 were relatively low.②A total of 19 different kinds KIR genotype were identified.The most common on KIR genotypes were AJ（2,2）,AH（5,2） and M（2,8）,with frequencies of 25.00%,10.71% and 10.71%.The following were P（2,17）,AI（1,5）,H（2,4） and C（5,3）,with frequencies of 9.52%,5.95%,5.95% and 4.76%.Also,in this study were identified two new genotypes U（17,21）,T（8,8）,which had not been observed in Han so far have been found.③A total of 11 different kinds of KIR haplotypes were identified.The haplotypes 2 was predominant with a frequency of 48.7%.The following was haplotypes 5 with a frequency of 15.8%.Furthemore,three new genotypes which had not been observed in other population so far,and three new genotypes could not be assigned to the haplotypes,accoding to standard method of Hsu.These findings suggested that there are distinctive frequencies of KIR gene content,genotype as well as haplotype in Xinjiang Uygur population of China.Meantime,the data demonstrate the presence of new KIR genotypes and haplotypes.