目的研究乌鲁木齐维吾尔族(简称乌市维族)献血人群17个KIR基因及基因型多态性特点。方法采集130名乌市维族无偿献血者外周血,应用多重PCR-SSP方法作KIR基因分型;根据等位基因频率网络数据库(AFND)中的ID号命名检测到基因型及单体型组成,以PEMS3.1软件对人群间KIR基因频率作卡方检验。结果130名乌市维族献血者个体均含有KIR基因2DL1、2DL4、3DL2、3DL3、2DP1和3DP1;3DL1、2DS4和2DL3较为常见,频率分别为0.709 1、0.708 5和0.722 6;2DL2、3DS1、2DS1、2DS3、2DS5和2DS2频率较低,分别为0.250 6、0.225 4、0.240 4、0.186 6、0.177 2和0.276 8。共发现30种KIR基因型,其中以ID号为1、2和5的基因型最为常见,频率分别为33.85%(44/130)、10.77%(14/130)和10.77%(14/130),还有1种基因型无法在AFND中查出其基因型。乌市维族献血者携带的KIR各基因中有10个的频率与南非圣族人明显不同(P〈0.01),有4~5个与拉萨藏族、四川汉族、浙江汉族和韩国人明显不同(P〈0.01),仅有1个与高加索人有明显不同(P〈0.01),而与乌市哈萨克族(简称哈族)均无明显差异(P〉0.05)。结论乌齐维族献血人群KIR基因分布与高加索人及乌市哈族相近。
Objective To analyze the diversity of 17 killer cell immunoglobulin-like receptor genes and genotypes in Urumqi uygur blood donors. Methods A total of 130 Urumqi uygur volunteer blood donors were selected and genotyped by Multiplex PCR-SSP. the haplotypes and genotypes were designated according the Allele Frequency Net Database (AFND). χ2 tests were performed by PEMS3.1. Results Among Urumqi uygur blood donors, KIR2DL1,2DL4,3DL2,3DL3,2DP1 and 3DPI were found in all samples,genes 3DL1,2DS4 and 2DL3 were with high frequencies(0. 7091,0. 7085and 0. 7226,respectively) ,genes 2DL2,3DS1,2DS1,2DS3,2DS5 and 2DS2 were with low frequencies (0. 2506,0. 2254,0. 2404,0. 1866, 0. 1772 and 0. 2768, respectively). A total of 30 K/R genotypes were identified, in which the genotypes named ,ID1 (33.85%) ,ID2( 10. 77% ) and ID5 ( 10. 77% ) were predominant,one genotype couldn't assign ID according AFND. Thecartier frequencies of 10 K/R genes in Urumqi uygur blood donors were different from that of South African San,4 - 5 were different from Lasa Tibetan, Sichuan Han, Zhejiang Han and South Korea;only 1 was different from Caucasian, no difference was observed between Urumqi and kazak populations in all 17K/R genes. Conclusion Urumqi uygur blood donors show close features with Caucasian and Urumqi kazak populations on K/R genes diversity.