云南汉族人群KIR基因多态性研究

Polymorphism of killer cell immunoglobulin-like receptors gene in Yunnan Han population,China

目的分析云南汉族人群杀伤细胞免疫球蛋白样受体(K IR)基因的多态性及基因型和单倍型特点。方法从献血者中随机选择150名无亲缘关系的云南汉族健康志愿者,采用序列特异性引物PCR法(PCR-SSP)对其进行KIR基因低分辨率检测,并根据Hsu等[5]的标准进行基因型和单倍型分析。结果在云南汉族人群中共检出目前已知的17个KIR基因,其中3DL3、2DL4、3DP1和3DL2框架基因存在于所有个体。2DL1、2DL3、2DP1、3DP1*003、3DL1、2DS4*001/002基因较为常见,而2DL2、2DL5A、2DL5B、2DS1、2DS2、2DS3、2DS4*003、2DS5、3DS1和3DP1*001/002基因频率较低。在云南汉族人群中共检出31种基因型,最常见基因型为AJ(2,2)和AF(1,2)型,频率分别为26.67%和17.33%。同时检出15种单倍型,以单倍型2最为常见,频率为47.3%。此外,还发现2种新基因型目前在其他人群中尚未见报道,3种基因型无法根据Hsu等[5]的标准模式分析出单倍型。结论云南汉族人群K IR基因分布表现出中国汉族人群K IR多态性的一些共同特点,同时具有其独特的KIR基因频率、单倍型频率和基因型频率分布。

Objective To study the polymorphism of killer immunoglobulin （Ig）-like receptor （KIR） gene in Yunnan Han population. Methods A total of 150 unrelated healthy individuals were randomly selected from volunteer blood donors in Yunnan Han population. The samples were genotyped by PCR-SSP, and the genotypes and haplotypes were assigned according to standard model of Hua. Results All of the 17 already known KIR genes were observed in our samples. Framework genes 3DL3, 3DP1, 2DL4 and 3DL2 were expressed in all individuals. The frequencies of 2DL1, 2DL3, 2DPI, 3DP1＊003, 3DLI, 2DS4＊001/002 loci were normal,while the frequencies of 2DL2, 2DLSA, 2DLSB, 2DS1,2DS2, 2DS3, 2DS4＊003, 2DS5, 3DS1 and 3DP1＊001/002 were relatively low. A total of 31 different kinds of KIR genotype were identified. The most common KIR genotypes were AJ（2, 2） and AF（ 1,2）, with frequencies of 26.67% and 17.33%, respectively. A total of 15 different kinds of KIR haplotypes were identified. The haplotype 2 was predominant, with a frequency of 47.3%. Furthermore, two new genotypes, which had not been observed in other population so far, have been found. And three new KIR genotypes could not be assigned to the haplotypes, according to standard method of Hua. Conelusion It is clear that the KIR gene polymorphisms in Yunan Han people are similar to those of Chinese Han population. Meanwhile, there are distinctive frequencies of KIR gene, haplotype as well as genotype, in Yunnan Han population.