四川骨髓库汉族人群KIR基因多态性研究  

Polymorphism of killer cell immunoglobulin-like receptors gene in Sichuan Han population,China

作　　者：王槊[1,2] 王珏[2] 纪欣[2] 杨刘[2] 陈强[2,3] 

机构地区：[1]中国医学科学院北京协和医学院研究生院,北京100000 [2]中国医学科学院北京协和医学院输血研究所 [3]四川省脐带血造血干细胞库

出　　处：《中国输血杂志》2010年第8期601-606,共6页Chinese Journal of Blood Transfusion

摘　　要：目的了解四川骨髓库汉族人群杀伤细胞免疫球蛋白样受体(K IR)基因多态性、基因型及其单体型的组成特点。方法随机选取四川骨髓库中川籍汉族捐献者标本135份,采用序列特异性引物扩增(PCR-SSP)对其进行基因检测,并依据Hsu等建立的方法进行基因型和单体型分析。结果在四川骨髓库汉族人群中,3DL3、3DL2、2DL4基因存在于所有个体,常见基因有2DL3、2DP1、2DL1、3DL1、2DS4*001/002,频率较低的有2DS2、2DL2、2DL5、3DS1、2DS3、2DS5、2DS1、2DS4*003基因。四川骨髓库汉族人群中共发现31种基因型,其中以AF(1,2)AJ(2,2)2型最为多见,频率分别为18.52%和20.74%,同时发现12种单体型,以单体型2最为多见,占43.4%。另外,四川骨髓库汉族人群有14种基因型难以通过Hsu的方法判定基因型,其中7种见于中国其他汉族人群的报道,另7种在其他人群中亦有报道。四川骨髓库汉族人群有6种基因型无法根据Hsu的方法判定其单体型组成。结论四川汉族人群KIR基因分布表现出中国汉族人群的特点,同时也具有独特的基因型和单体型分布特征。Objective To analyze the polymorphism of killer cell immunoglobulin-like receptors gene in Sichuan Han population.Methods A total of 135 samples were randomly selected from CMDP Sichuan branch,and genotyped by PCR-SSP.Based on those standards established by Hsu,the genotypes and haplotypes of all samples were designated.Results Among the Sichuan Han population,framework genes 3DL3、3DL2 and 2DL4 were found expressed in all samples,genes 2DL3、2DP1、2DL1、3DL1、2DS4^＊001/002 were with high frequencies and genes 2DS2、2DL2、2DL5、3DS1、2DS3、2DS5、2DS1、2DS4^＊003 were with low frequencies.A total 31 kinds of KIR genotype were identified,among which the genotype AF（1,2） and AJ（2,2） were most common,with its frequencies of 18.52% and 20.74%,respectively.Meanwhile,a total 12 kinds of KIR haplotypes were identified,among which the haplotype 2 was most common,with frequency of 43.4%.Besides,14 kinds＇ genotypes were not able to be identified via those standards established by Hsu,7 of which used to be reported in Han populations from other areas,and the other 7 were reported in other populations from all over the world.Furthermore,6 KIR genotypes were not able to designate their haplotype combinations.Conclusion Sichuan Han population share the same feature with other Han populations on KIR gene polymorphism,but also,possess its unique frequencies of KIR gene,genotypes and haplotypes.

关 键 词：杀伤细胞免疫球蛋白样受体 基因频率 基因型 单体型 

分 类 号：R457.11[医药卫生—治疗学]