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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 study the characteristics of 17 KIR genes and genotypes among blood donors in Urumqi Uighur ethnic group. Methods A total of 130 Uighur blood donors were enrolled in this study. KIR genotyping was performed by multiplex PCR-SSP. Genotype and haplotype composition were detected by ID number in allele frequency database (AFND) PMIS3.1 software KIR gene frequency of inter-population chi-square test. Results All 130 Uighur blood donors contained KIR genes 2DL1, 2DL4, 3DL2, 3DL3, 2DP1 and 3DP1. 3DL1, 2DS4 and 2DL3 were more common at frequencies of 0.709, 1.708 5 and 0.722 6, respectively. 2DL2, 3DS1 and 2DS1 , 2DS3, 2DS5 and 2DS2 lower frequency, respectively 0.250 6,0.225 4,0.240 4,0.186 6,0.177 2 and 0.276 8. A total of 30 KIR genotypes were found, of which genotypes IDNs 1, 2 and 5 were the most common, with frequencies of 33.85% (44/130), 10.77% (14/130) and 10.77% (14/130) , There is a genotype can not be found in the AFND genotypes. In Uighur blood donors, 10 of KIR genes were significantly different from those of South Africa (P <0.01), and 4 to 5 were significantly different from Lhasa Tibetan, Sichuan Han, Zhejiang Han and South Koreans (P < 0.01). Only one was significantly different from Caucasians (P <0.01), while there was no significant difference with Kazakh (Kazakh) (P> 0.05). Conclusions KIR gene distribution in Uzviv blood donors is similar to Caucasians and Urushi Kazakhs.