潮州市新生儿G6PD筛查和基因型鉴定分析  

G6PD deficiency screening and genotyping analysis of newborns in Chaozhou,Guangdong Province

作　　者：陈新瑶 梁雪雁 黄慧莹 林伟琦 丁燕佳 韦华贵 王俊利 林敏[3] CHEN Xinyao;LIANG Xueyan;HUANG Huiying;LIN Weiqi;DING Yanjia;WEI Huagui;WANG Junli;LIN Min(Department of Medical Laboratory,Chaozhou People’s Hospital Affiliated to Shantou University Medical College,Chaozhou,Guangdong,China,521011;School of Clinical Medicine,Youjiang Medical University for Nationalities,Baise,Guangxi,China,533000;School of Food Engineering and Biotechnology,Hanshan Normal University,Chaozhou,Guangdong,China,521011)

机构地区：[1]汕头大学医学院附属潮州市人民医院中心实验室,广东潮州521011 [2]右江民族医学院检验学院,广西百色533000 [3]韩山师范学院食品工程与生命科学院,广东潮州521011

出　　处：《分子诊断与治疗杂志》2021年第6期881-884,共4页Journal of Molecular Diagnostics and Therapy

基　　金：广东省医学科学技术研究基金项目(B2019232,A2019198);广西省自然基金重点项目(AB18221029;2019JJD140052);广东省重点学科科研项目(2019-GDXK-0031)

摘　　要：目的了解潮州地区人群葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症分子流行病学特征,为本地区G6PD缺乏症的防控提供依据。方法采用荧光分析法筛查2012年1月—2019年12月期间34 813例潮州地区新生儿。随机抽取初筛酶活性缺乏男性样本420例,用聚合酶链反应-反向斑点杂交(PCR-RDB)芯片进行基因型鉴定。结果潮州地区新生儿G6PD活性筛查阳性率为3.35%(1 167/34 813),男女筛查阳性率分别为4.75%(897/18 880)和1.69%(270/15 933)。男性新生儿筛查阳性率明显高于女性新生儿,差异具有统计学意义(P<0.05)。在420例进行基因型鉴定的样本中,检出9种G6PD突变等位基因的样本占86.9%(365/420),其中最常见的5种为c.1376 G>T(41.43%)、c.1388 G>A(24.52%)、c.95 A>G(6.96%)、c.1024C>T(5.24%)和c.1311C>T(4.76%)。所有的c. 871 G>A均与c.1311C>T连锁。结论初步了解了潮州人群G6PD缺乏症的分布特征,为本地区预防G6PD缺乏症的发生、指导临床、提高地区总体人口素质及研究人群起源提供一定的依据。Objective To investigate the molecular epidemiological character of glucose-6-phosphate dehydrogenase(G6PD)deficiency,and to provide evidence for prevention and control of G6 PD deficiency in Chaozhou. Methods The fluorescence analysis method was used to screen 34 813 newborns in Chaozhou area from January 2012 to December 2019. A random sample of 420 men with enzyme activity deficiency was selected,and the polymerase chain reaction-reverse dot hybridization(PCR-RDB)chip was used for genotyping. Results The positive rate of neonatal G6PD activity screening in Chaozhou area was3.35%(1 167/34 813),and the positive rates of male and female screening were 4.75%(897/18 880)and1.69%(270/15 933),respectively. The positive rate of male newborn screening was significantly higher than that of female newborns,and the difference was statistically significant(P<0.05). Among the 420 samples for genotyping,9 types of G6 PD mutant alleles were detected in 86.9%(365/420),and the most common 5 types were c.1376 G>T(41.43%),c. 1388 G>A(24.52%),c.95 A>G(6.96%),c.1024 C>T(5.24%)and c.1311 C>T (4.76%). All c.871 G>A are linked to c.1311 C>T. Conclusion The preliminary understanding of the distribution characteristics of G6PD deficiency in Chaozhou population provides a basis for preventing the occurrence of G6PD deficiency in the region,guiding clinical practice,improving the overall population quality of the region,and studying the origin of the population.

关 键 词：G6PD缺乏症 潮州 遗传突变 

分 类 号：R722.1[医药卫生—儿科]