中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
2期
189-194
,共6页
姚莉琴%邹团标%王兴田%全星%陈谦%杨发斌%忽丽莎%范丽梅%王敏
姚莉琴%鄒糰標%王興田%全星%陳謙%楊髮斌%忽麗莎%範麗梅%王敏
요리금%추단표%왕흥전%전성%진겸%양발빈%홀려사%범려매%왕민
葡萄糖-6-磷酸脱氢酶缺乏症%特有少数民族%流行病学
葡萄糖-6-燐痠脫氫酶缺乏癥%特有少數民族%流行病學
포도당-6-린산탈경매결핍증%특유소수민족%류행병학
glucose 6-phosphate dehydrogenase deficiency%Ethnic minority%Epidemiology
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.
目的 瞭解雲南省15箇少數民族兒童葡萄糖-6-燐痠脫氫酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏癥的流行病學現狀.方法 對雲南省15箇少數民族11 759名兒童進行G6PD缺乏癥的篩查,採用熒光斑點試驗和G6PD/6PGD定量比值法檢測,併進行統計學分析.結果 15箇少數民族和漢族兒童G6PD缺乏癥總檢齣率為2.5％,男童為3.5％,女童為1.4％,不同年齡G6PD缺乏癥檢齣率男童明顯高于女童；G6PD缺乏癥檢齣率各民族之間差異有統計學意義；各地區之間差異有統計學意義；漢族G6PD缺乏癥檢齣率為0.7％,低于多數少數民族；迴歸分析,海拔和遺傳傢族史進入方程,併有統計學意義.結論 G6PD缺乏癥符閤X伴性遺傳方式:不同年齡組男童明顯高于女童,相對高髮的地區和民族男童明顯高于女童；G6PD缺乏癥的分佈呈“南高北低”的趨勢,其缺乏率雖然與民族有關,更重要的與地域有關；經過多年的防治,檢齣率在下降.該調查為雲南省少數民族進行遺傳咨詢及進行G6PD缺乏癥的預防提供瞭有價值的基礎資料.
목적 료해운남성15개소수민족인동포도당-6-린산탈경매(glucose-6-phosphate dehydrogenase,G6PD)결핍증적류행병학현상.방법 대운남성15개소수민족11 759명인동진행G6PD결핍증적사사,채용형광반점시험화G6PD/6PGD정량비치법검측,병진행통계학분석.결과 15개소수민족화한족인동G6PD결핍증총검출솔위2.5％,남동위3.5％,녀동위1.4％,불동년령G6PD결핍증검출솔남동명현고우녀동；G6PD결핍증검출솔각민족지간차이유통계학의의；각지구지간차이유통계학의의；한족G6PD결핍증검출솔위0.7％,저우다수소수민족；회귀분석,해발화유전가족사진입방정,병유통계학의의.결론 G6PD결핍증부합X반성유전방식:불동년령조남동명현고우녀동,상대고발적지구화민족남동명현고우녀동；G6PD결핍증적분포정“남고북저”적추세,기결핍솔수연여민족유관,경중요적여지역유관；경과다년적방치,검출솔재하강.해조사위운남성소수민족진행유전자순급진행G6PD결핍증적예방제공료유개치적기출자료.
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.
