Real-time PCR分型法检测苏南地区汉族人群KIR基因多态性

The polymorphism of KIR gene in the Han population of Southern Jiangsu by Real-time PCR genotyping method

目的利用SYBR Green I Real-time PCR分型方法检测杀伤细胞免疫球蛋白样受体(killer cell immunoglobulin-likereceptor,KIR)基因,探讨苏南地区汉族人群KIR基因的分布特点。方法应用SYBR Green I Real-time PCR法对191名苏南地区汉族非亲缘健康人群进行KIR基因分型。结果 SYBR Green I Real-time PCR法有效地进行了KIR基因分型。已知的16种KIR基因在苏南地区汉族人群均被检出。框架基因2DL4、3DL2、3DL3和假基因3DP1存在于所有受检个体中。最常见的非框架基因为2DL1、2DL3、3DL1、2DS4以及假基因2DP1。共检出33种KIR基因型,最常见的为AA1(39.27%),其次为BX2、BX4和BX8。发现仅在新加坡华人报道的罕见基因型BX331和BX337,及仅在墨西哥人群罕见的基因型BX427。结论苏南汉族人群中检测出已知的16种KIR基因,共发现33种基因型,最常见的为AA1,并见到3个罕见基因型BX331、BX337和BX427。

The aim of our study is to investigate the genotyping of killer cell immunoglobulin-like receptor （KIR） gene in Southern Jiangsu Han population by a Real-time PCR method. Total of 191 unrelated healthy individuals were KIR typed, and KIR genes were effectively genotyped by the analysis of the melting curve （Tm）. All 16 known KIR genes were detected in these individuals. The framework KIR genes 2DL4, 3DL2, 3DL3, and the pseudogene 3DP1 were found in all detected individuals; the most frequent non-framework KIR genes detected in the population were 2DL1, 2DL3, 3DL1, 2DS4, and the pseudogene 2DP1. The total 33 KIR genotypes were found in the detected individuals. The most commonly observed KIR genotype was AA1 with a frequency of 39.27%; the next were BX2, BX4 and BXS. The rare alleles BX331 and BX337 found only in Singapore population and BX427 found only in Mexico population were identified in the detected individuals. The results showed that all 16 known KIR genes and total 33 KIR genotypes are exist in Southern Jiangsu Han population, among them the most frequent KIR genotype is AA1. Furthermore, the rare KIR genotypes BX331, BX337 and BX427 are also found in our population.