湖南地区汉族无偿献血人群中KIR基因多态性研究  

Analysis of KIR gene polymorphism in Han blood donors from Hunan Province

作　　者：陈洁 阳智芬 曹丽群[1] 蒋义 康甜[1] 谢毓滨[1] CHEN Jie;YANG Zhi-fen;CAO Li-qun;JIANG Yi;KANG Tian;XIE Yu-bin(Institute of Blood Transfusion,Changsha Blood Center,Changsha 410001,Hunan,China)

机构地区：[1]长沙血液中心输血研究所,湖南长沙410001

出　　处：《广东医学》2025年第1期119-123,共5页Guangdong Medical Journal

基　　金：长沙市自然科学基金项目(kq2202062)。

摘　　要：目的调查湖南地区汉族无偿献血人群中KIR基因型和基因多态性。方法在长沙血液中心无偿献血者库中随机抽取湖南籍汉族无血缘关系的332例志愿者外周血,应用荧光PCR法结合Taqman探针技术对人类自然杀伤细胞免疫球蛋白受体(KIR)16种基因进行定性分型检测,参照等位基因频率网络数据库(AFND)的命名,检测基因型及单体型组成,采用统计软件SPSS 19.0对人群间KIR的16种基因频率进行χ^(2)检验。结果332例检出16种已知KIR基因,所有样本均表达KIR2DL4、3DL2、3DL3基因;其中分布较广的为KIR2DL1(99.70%)、2DP1(99.70%)、3DP1(99.70%)、2DL3(99.10%)、2DS4(96.99%)、3DL1(96.39%);分布较低的为KIR2DS3(19.28%)、2DL2(21.39%)、2DS2(21.69%)、2DS5(21.69%)。共发现29种基因型,其中AA基因型有4种,最常见的基因型为ID1。有14种基因型在本次检测的湖南汉族人群中出现一次。结论湖南省汉族人群的KIR基因型分布相对集中,与其他地区汉族人群大致相似,但也具有其明显的特点,具有一定的多态性。Objective To investigate the genotype and polymorphism of killer immunoglobulin-like receptors(KIR)in Han blood donors from Hunan Province.Methods Peripheral blood samples were collected from 332 unrelated Han blood donors randomly selected from the database of the Changsha Blood Center.Fluorescent PCR combined with Taqman probe technology was employed for qualitative genotyping of 16 known KIR genes.Gene frequencies,genotypes,and haplotypes were analyzed according to the Allele Frequency Net Database(AFND).Statistical analysis of KIR gene frequencies was performed using SPSS 19.0 software andχ^(2)test.Results All 332 individuals expressed KIR2DL4,3DL2,and 3DL3 genes.The most prevalent genes included KIR2DL1(99.70%),2DP1(99.70%),3DP1(99.70%),2DL3(99.10%),2DS4(96.99%),and 3DL1(96.39%),while less common genes were KIR2DS3(19.28%),2DL2(21.39%),2DS2(21.69%),and 2DS5(21.69%).A total of 29 genotypes were identified,including 4 AA genotypes.The most frequent genotype was ID1.Fourteen genotypes were observed only once in this cohort.Conclusion The distribution of KIR genotypes in the Han population of Hunan Province is relatively concentrated,displaying similarities with other Han populations in China.However,distinct polymorphic characteristics were identified,demonstrating notable genetic diversity.

关 键 词：自然杀伤细胞免疫球蛋白受体 基因多态性 基因频率 

分 类 号：R394[医药卫生—医学遗传学] R392.2[医药卫生—基础医学]