中国北方汉族HLA基因C位点遗传多态性研究  

Polymorphism of HLA-C locus in a Northern Chinese Han population

作　　者：李丹[1] 刘海燕[1] 于燕[1] 郗斌[1] 

机构地区：[1]北京大学人民医院北京大学血液病研究所HLA实验室,北京100044

出　　处：《中国免疫学杂志》2004年第1期50-52,共3页Chinese Journal of Immunology

摘　　要：目的:研究北方汉族人群HLA(人类白细胞抗原)基因C位点的遗传特征。方法:采用序列特异性引物扩增(Polymerase Chain Reaction-Sequence-Specific Primers PCR-SSP)方法对205个样本进行HLA-C及-A、-B基因特异性分析。结果:检出C位点特异性14个,其中Cw*01、*07基因表现频率最高,分别为30.73％和27.80％;血清学方法检测不出的HLA-Cw*12、*14、*15表现频率分别为13.17％、4.88％、8.78％。统计显示显著性连锁不平衡的HLA-B-C单倍型24个,HLA-A-C单倍型5个。结论:作为中国北方人HLA遗传多态性群体调查,提供了一套比较完整准确的基因频率和连锁不平衡参数,为人类学及疾病相关性等研究提供了较为完整的正常参考数据。Objective: To study the characteristic of HLA-C distribution of Northern Chinese people and obtain more comprehensive and accurate gene data.Methods:HLA-C and A,B typing were detected by sequence-specific primers (PCR-SSP) .Results: 14 HLA-C alleles and 24 HLA-C-B,5 HLA-A-C haplotypes with linkage disequilibrium were found. Their gene frequency were gotten. Conclusion: This data may serve as normal reference values for the population in North China.

关 键 词：HLA 人类白细胞抗原 基因频率 连锁不平衡 

分 类 号：R392.2[医药卫生—免疫学]