云南汉族人群KIR基因多态性研究

发布时间：2018-04-01 04:46

本文选题：杀伤细胞免疫球蛋白样受体　切入点：基因多态性　出处：《中国输血杂志》2008年04期

【摘要】：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。
[Abstract]:Objective to analyze the polymorphism, genotype and haplotype of killer cell immunoglobulin-like receptor (IRK) gene in Yunnan Han population.Methods one hundred and fifty unrelated healthy volunteers from Yunnan Han nationality were randomly selected from blood donors to detect the low resolution KIR gene by sequence specific primer PCR method. The genotypes and haplotypes were analyzed according to the standard of Hsu et al [5].A total of 31 genotypes were detected in Yunnan Han population. The most common genotypes were AJG 2N 2) and AFG 1G 2). The frequencies were 26.67% and 17.33%, respectively.At the same time, 15 haplotypes were detected, among which haplotype 2 was the most common, and the frequency was 47.3%.In addition, it was found that two new genotypes were not reported in other populations at present. Three genotypes could not be identified according to the standard model of Hsu et al. [5].Conclusion the distribution of K-IR gene in Yunnan Han population shows some common characteristics of K-IR polymorphism in Chinese Han population, and it also has its unique KIR gene frequency, haplotype frequency and genotype frequency distribution.
【作者单位】：中国医学科学院北京协和医学院输血研究所云南昆明血液中心四川省脐带血造血干细胞库中国医学科学院北京协和医学院输血研究所云南昆明血液中心云南昆明血液中心云南昆明血液中心中国医学科学院北京协和医学院输血研究所中国医学科学院北京协和医学院输血研究所
【分类号】：R450

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