云南省15个少数民族七岁以下儿童G6PD缺乏症的调查研究

摘要

目的 了解云南省15个少数民族儿童葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症的流行病学现状.方法 对云南省15个少数民族11 759名儿童进行G6PD缺乏症的筛查,采用荧光斑点试验和G6PD/6PGD定量比值法检测,并进行统计学分析.结果 15个少数民族和汉族儿童G6PD缺乏症总检出率为2.5％,男童为3.5％,女童为1.4％,不同年龄G6PD缺乏症检出率男童明显高于女童；G6PD缺乏症检出率各民族之间差异有统计学意义；各地区之间差异有统计学意义；汉族G6PD缺乏症检出率为0.7％,低于多数少数民族；回归分析,海拔和遗传家族史进入方程,并有统计学意义.结论 G6PD缺乏症符合X伴性遗传方式:不同年龄组男童明显高于女童,相对高发的地区和民族男童明显高于女童；G6PD缺乏症的分布呈“南高北低”的趋势,其缺乏率虽然与民族有关,更重要的与地域有关；经过多年的防治,检出率在下降.该调查为云南省少数民族进行遗传咨询及进行G6PD缺乏症的预防提供了有价值的基础资料.%Objective To investigate the epidemiological status of glucose-6-phosphate dehydrogenase (G6PD) deficiency among children from Yunnan with unique ethnic origins.Methods DNA samples from 11 759 children were tested with fluorescent spot test,G6PD/6PGD quantitative ratio assay and hemoglobin electrophoresis.Results The detection rate of G6PD deficiency was 2.5％,for which boys were significantly greater than girls (3.5％ vs.1.4％,P＜0.05).Significant differences were also detected among children from different ethnic groups and different regions.For ethnic Han Chinese,the detection rate was 0.7％,which was lower than the majority of ethnic minorities.By regression analysis,altitude of residence and family history both have significant influence on the calculated rate.Conclusion Occurrence of G6PD deficiency seems to be influenced by gender.It also varies substantially between different ethnic groups as well as regions,e.g.,more common in south.It also showed a declining trend after years of diagnosis and intervention.This survey may provide a valuable basis for counseling of G6PD deficiency in Yunnan.