Key Laboratory of Environment and Gene Related to Diseases (Xi'an Jiaotong University), Ministry of Education, Xi'an, Shaanxi, China.
Hum Immunol. 2010 Nov;71(11):1116-23. doi: 10.1016/j.humimm.2010.07.010. Epub 2010 Aug 2.
The aim of this study was to analyze killer immunoglobulin-like receptor (KIR) gene polymorphisms in the Tibetan ethnic minority of China. To that purpose, we have studied KIR gene frequencies and genotype diversities of 16 KIR genes and three pseudogenes (2DL1, 2DL2, 2DL3, 2DL4, 2DL5A, 2DL5B, 2DS1, 2DS2, 2DS3, 2DS4001/002, 2DS4003-007, 2DS5, 3DL1, 3DL2, 3DL3, 3DS1, 2DP1, 3DP1001/002/004, and 3DP1003) in a population sample of 102 unrelated healthy individuals of the Tibetan population living in Lhasa city, Tibet Autonomous Region of China. Tibetans mainly live in "the roof of the world," the Qinghai-Tibet Plateau of China and surrounding areas stretching from central Asia in the North and West to Myanmar and mainland China in the East, and India, Nepal, and Bhutan to the south. KIR gene frequencies and statistical parameters of Tibetan ethnic minority were calculated. Fifteen KIR genes were observed in the 102 tested Tibetan individuals with different frequencies. The allelic frequencies of the 15 KIR genes ranged from 0.06 to 0.86. In addition, KIR 2DL1, 2DL4, 3DL2, and 3DL3 were found to be present in every individual. Variable gene content, together with allelic polymorphisms, can result in individualized human KIR genotypes and haplotypes, with the A haplotypes being predominantly observed. The results of tested linkage disequilibrium (LD) among KIR genes demonstrated that KIR genes present a wide range of linkage disequilibrium. Moreover, a comparison of the population data of our study with previously published population data of other ethnic groups or areas was performed. The differences of allelic frequency distribution in KIR2DL2, 2DL3, 2DL5, 3DL1, 2DS1, 2DS2, 2DS3, 3DS1, and 2DP1 were statistically significant among different populations using the statistical method of the standard χ(2) test. In conclusion, the results of the present study can be valuable for enriching the Chinese ethnical gene information resources of the KIR gene pool and for anthological studies, as well as for KIR-related disease research.
本研究旨在分析中国藏族人群中的杀伤细胞免疫球蛋白样受体（KIR）基因多态性。为此，我们研究了 16 个 KIR 基因和 3 个假基因（2DL1、2DL2、2DL3、2DL4、2DL5A、2DL5B、2DS1、2DS2、2DS3、2DS4001/002、2DS4003-007、2DS5、3DL1、3DL2、3DL3、3DS1、2DP1、3DP1001/002/004 和 3DP1003）在来自中国西藏自治区拉萨市的 102 名无关健康个体的人群样本中的基因频率和基因型多样性。藏族人主要生活在中国的“世界屋脊”——青藏高原及其周边地区，北至中亚，西至缅甸和中国大陆，东至印度、尼泊尔和不丹，南至印度、尼泊尔和不丹。计算了藏族少数民族的 KIR 基因频率和统计参数。在 102 名藏族测试个体中观察到了 15 个 KIR 基因，其频率不同。15 个 KIR 基因的等位基因频率范围为 0.06 至 0.86。此外，发现 KIR 2DL1、2DL4、3DL2 和 3DL3 存在于每个个体中。可变基因含量加上等位基因多态性可导致个体人类 KIR 基因型和单倍型的个体化，其中 A 单倍型占主导地位。测试 KIR 基因之间的连锁不平衡（LD）的结果表明，KIR 基因存在广泛的连锁不平衡。此外，还对本研究的群体数据与其他群体或地区以前发表的群体数据进行了比较。使用标准 χ(2)检验的统计方法，不同人群中 KIR2DL2、2DL3、2DL5、3DL1、2DS1、2DS2、2DS3、3DS1 和 2DP1 的等位基因频率分布差异具有统计学意义。总之，本研究的结果可为丰富中国 KIR 基因库的民族基因信息资源以及人类学研究以及 KIR 相关疾病研究提供有价值的信息。
