陕西地区汉族人群KIR 基因多态性的研究  

Polymorphism of Killer Cell Immunoglobulin-like Receptor Gene in Shaanxi Han Population

作　　者：王天菊[1] 尚利侠 徐华[1] 武君华[1] 陈乐 王满妮[1] 王小芳[1] 齐珺[1] WANG Tian-ju;SHANG Li-xia;XU Hua(Shaanxi Blood Center,Xi'an,Shaanxi 710061)

机构地区：[1]陕西省血液中心西安市中心血站,陕西省西安市710061

出　　处：《临床输血与检验》2023年第2期225-230,共6页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：陕西省重点研发计划一般项目(No.2022SF-098);西安市科技计划项目(No.20YXYJ0009-5)资助。

摘　　要：目的研究陕西地区汉族人群自然杀伤细胞免疫球蛋白样受体(KIR)基因多态性及基因型特点。方法随机抽取474名陕西地区造血干细胞无偿捐献者外周血,KIR基因分型采用聚合酶链式反应-序列特异性引物扩增技术;基因型参照等位基因频率网络数据库(AFND)中的命名序号。结果陕西地区汉族人群中,存在于所有个体的基因有KIR 3DP 1、3DL 2、3DL 3、2DL 3和2DL 4。KIR 2DS 4、3DL 1、2DL 1、2DP 1、2DS 3、2DL 2、2DS 2、2DS 5、2DS 1、3DS 1、2DL 5基因频率分别为67.51%、96.20%、98.52%、99.37%、15.61%、20.89%、25.74%、29.32%、37.55%、37.76%、40.30%。共发现44种KIR基因型,其中以ID号为1、195、2、10、79最为常见,其频率分别为29.96%、13.08%、8.02%、5.91%、5.48%。结论陕西地区汉族人群KIR基因和基因型与中国汉族人群KIR分布有一些共同特点,同时有自身的分布特征。Objective To analyze killer cell immunoglobulin-like receptor(KIR)gene polymorphism and genotypes characteristics in Shaanxi Han population.Methods The peripheral blood of 474 hematopoietic stem cell voluntary donors in Shaanxi were randomly collected and genotyped by polymerase chain reaction-sequence specific primer(PCR-SSP).The genotypes were designated according the Allele Frequency Net Database(AFND).Results Among Shaanxi Han population,KIR3DP1,3DL2,3DL3,2DL3 and 2DL4 were found in all samples.The gene frequencies of KIR2DS4,3DL1,2DL1,2DP1,2DS3,2DL2,2DS2,2DS5,2DS1,3DS1 and 2DL5 were 67.51%,96.20%,98.52%,99.37%,15.61%,20.89%,25.74%,29.32%,37.55%,37.76%and 40.30%respectively.A total of 44 KIR genotypes were confirmed,among which ID1,195,2,10 and 79 were the most common,with frequencies of 29.96%、13.08%、8.02%、5.91%and 5.48%,respectively.Conclusion The distribution of KIR genes and genotypes in Shaanxi Han population shows common features with Chinese Han population,and have their own distribution characteristics.

关 键 词：杀伤细胞免疫球蛋白样受体 基因多态性 基因型 

分 类 号：R394[医药卫生—医学遗传学]