【摘要】 目的全面了解中国大陆各地区HLA-B*58:01基因的阳性率和频率,有效地指导高尿酸血症患者临床用药及临床基因筛查的必要性。方法对中华骨髓库891 793例中国大陆人群行HLA高分辨分型,并按31个省市自治区分层,明确HLA-B*58:01基因阳性率和基因频率。结果中国大陆人群HLA-B*58:01基因阳性率呈现南方人群中较其他地区高;按地区分类,华南地区的HLA-B*58:01基因阳性率最高,西南地区及北方地区阳性率较低;按省市自治区分类,阳性率较高的分别为福建(28.43%)、广西(20.75%)、海南(20.20%)、广东(19.66%)、浙江(18.38%),阳性率较低的为天津(3.52%)、内蒙古(3.49%)、西藏(3.27%)、河北(3.11%)、山西(3.08%)。结论重视高尿酸血症HLA-B*58:01基因阳性人群,尤其应对中国南方人群高尿酸血症患者进行HLA-B*58:01基因筛查,以避免使用别嘌呤醇所致严重不良后果。更多还原

【Abstract】 Objective To comprehensively understand HLA-B*58:01positive rate and gene frequency of various areas in mainland China,effectively guide the hyperuricemia patients clinical medication and clear the necessity of clinical genetic screening.Methods 891793 HLA high resolution typing results of mainland China people were get from CMDP(China Marrow Donor Program)data bank,classified into 31 provinces and regions,clarify the positive rate and gene frequency of HLA-B*58:01.Results HLA-B*58:01positive rate of south China provinces is higher than other regions,according to the region classification,positive rate of southern China is highest,positive rate of southwest China and north China is lower;according to the province of classification,positive rate of Fujian(28.43%),Guangxi(20.75%),Hainan(20.20%),Guangdong(19.66%)and Zhejiang(18.38%)are higher,positive rate of Tianjin(3.52%),Inner Mongolia(3.49%),Tibet(3.27%),Hebei(3.11%)and Shanxi(3.08%)are lower.Conclusion The hyperuricemia patients with HLA-B*58:01should be paid attention.In order to avoid serious skin reactions after using allopurinol,the patients should be gene screened for HLA-B*58:01,especially in southern China.更多还原