闽南地区人群中HLA-B* 5801基因频率的分析

Analysis of frequency of HLA-B* 5801 in population of Chinese Minnan region

目的:了解闽南地区人群中HLA-B*5801的基因频率,探讨筛查HLA-B*5801的必要性。方法:本研究选取闽南地区178名需服用别嘌呤醇的患者(痛风患者40例,高尿酸血症患者89例和痛风性关节炎患者49例)和100名健康人,从全血中提取DNA,采用实时荧光PCR技术(Real-time PCR)和碱基序列测序(SBT)技术对所有DNA样本进行测定。结果:通过检测发现有22%的患者及16%的健康人含有HLA-B*5801,在患者中HLA-B*5801的基因频率为0.13,在健康人中为0.09,PCR法与SBT法检测结果一致。结论:闽南地区人群中HLA-B*5801的基因频率较高,因此需服用别嘌呤醇的患者在服药前有必要进行HLA-B*5801的筛查。

Objective： To investigate the gene frequency of HLA-B＊ 5801 in the population of Chinese Minnan region. Methods： In this study, we enrolled 178 patients requiring allopurinol therapy（ including 40 patients with gout,89 patients with hyperuricemia and 49 patients with gouty arthritis） and 100 healthy people. We isolated genomie DNA from their blood and screened for HLA-B ＊ 5801 with both PCR and gene sequencing. Results： We found 22% patients and 16% healthy people with HLA-B ＊ 5801. The frequencies of HLA-B ＊ 5801 in patients and healthy people are 0. 13 and 0. 09, respectively. The results from PCR and gene sequencing were consistent. Conclusion： The frequency of HLA-B ＊ 5801 in the population of Chinese Minnan region is relatively high. Therefore,it is necessary to screen for HLA-B ＊ 5801 in allopurinol users before taking the medicine.