吉林地区朝鲜族KIR基因多态性的研究

目的 分析吉林地区朝鲜族人群自然杀伤细胞免疫球蛋白样受体( KIR)基因的多态性及基因型和单倍型特点,并与吉林地区汉族人群KIR基因多态性进行比较.方法 采用PCR-SSP法检测中华造血干细胞库吉林分库中随机选择的吉林地区160名朝鲜族和214名汉族人的KIR基因,并分析其基因型和单倍型.结果 框架基因KIR3DL2、KIR3DL3、KIR2DL4存在于所有被检测者中,其基因频率均为100％.KIR2DL1、2DL3、3DL1、3DP1 *003、2DP1基因频率较高,而2DL2、2DS2、2DS3、3DP1 *001/002/004基因频率较低.全部样本中共检测出39种基因型和16种单倍型,其中以AJ和AF基因型最常见,频率分别为18.1％、19.4％和31.8％、19.6％,以单倍型2最常见,频率分别为41.8％(n=127)和51.2％(n=216),两者比较差异有统计学意义(P＜0.05).结论 吉林地区朝鲜族和汉族人群KIR基因分布具有一些共同特征,但也表现出本民族独特的KIR基因多态性特征.

Polymorphism of KIR gene family in Korean ethnic group of Jilin area

Objective To analyze the polymorphism of natural killer cell immunoglobulin-like receptor (KIR)gene and the characteristics of its genotypes and haplotypes in Korean ethnic group of Jilin area,and to compare with that of Han nationality.Methods DNA samples randomly collected from 214 Han and 160 Korean populations were genotyped with PCR-SSP method,and KIR geneotypes and haplotypes were assigned according to the standard model by Hsu et al.Results All individuals contain KIR 3DL3,KIR 2DL4,KIR 3DL2 with the genotype frequency of 100％ ; the most common genotypes were 2DL1,2DL3,3DL1,3DP1 *003 and 2DP1 ; the genotypes with low frequency were 2DL2,2DS2,2DS3,3DP1 *001/002/004.Thirty-nine different KIR geneotype and 16 halpotypes had been found in Korean and Han individuals.The most common KIR genotypes were AJ and AF with frequency of 18.1％,19.4％ and 31.8％,19.6％,respectively.The most common KIR halpotype was halpotype 2 with frequency of 41.8％ ( n =127) and 51.2％ ( n =216) ( P ＜ 0.05 ),respectively.Conclusion KIR gene distribution in Jilin Korean ethnic group showed some common features of KIR gene polymorphisms in Chinese Han population,but also showed this nation' s unique characteristics of KIR gene polymorphism.