新生儿葡萄糖6磷酸脱氢酶缺乏症筛查及基因突变类型鉴定  

Neonatal screening of glucose-6-phosphate dehydrogenase deficiency and gene mutations diagnosis

作　　者：许洪平[1] 王燕敏[1] 谭昌渊[1] 任兆瑞[1] 田国力[1] 

机构地区：[1]上海交通大学附属儿童医院,上海200040

出　　处：《中国妇幼保健》2008年第36期5154-5155,共2页Maternal and Child Health Care of China

摘　　要：目的:对新生儿进行葡萄糖6磷酸脱氢酶(G6PD)缺乏症的筛查及基因突变类型鉴定,了解上海地区G6PD缺乏症的发生率及基因突变类型特点,以便防病治病,提高健康水平。方法:用荧光法测定滤纸干血片上的G6PD活性进行初筛,用G6PD/6PGD比值法复诊,再用突变特异性扩增系统(ARMS)对确诊患儿及家系作基因突变类型鉴定。结果:34 506例新生儿中确诊患儿62例,占0.18%,男孩检出率大于女孩(男∶女=7.9∶1)。突变类型以G1388A居多,其次为G1376T。结论:开展新生儿G6PD缺乏症筛查对预防疾病有重要意义,基因突变类型鉴定将得到广泛应用。Objective： To investigate the rate of glucose -6 -phosphate dehydrogenase deficiency and the characteristic of gene mutations with screening neonatal in Shanghai area to prevent disease and treat illness, improve the level of health. Methods： Dry blood fil- ter paper were preliminary examined by fluorescent assay, then the children who ascertained with G6PD deficiency were screened by the ratio of G6PD to 6PGD. The gene mutations of a part of patients and their parents were investigated by amplified refractory mutation system （ARMS） . Results： 62 cases of G6PD deficiency were diagnosed in 34 506 children. The rate was 0. 18%. The ratio of boys to girls was 7. 9： 1. Major gene mutations was G1388A. Conclusion： It is important to develop the neonatal screening G6PD deficiency. The ARMS provides a simple, rapid, and accurate screening method for mutations and it will be widely used in the future.

关 键 词：新生儿 葡萄糖6磷酸脱氢酶 基因 突变类型鉴定 

分 类 号：R722[医药卫生—儿科]