摘要
目的研究甘肃省甲基丙二酸血症的发病率及致病基因突变谱。方法回顾性分析2018年1月-2021年12月甘肃省妇幼保健院新生儿疾病筛查中心对各地州市送检新生儿样本遗传代谢病筛查、诊断的结果,得出甘肃省甲基丙二酸血症发病率;根据新生儿疾病筛查中心和临床儿科确诊甲基丙二酸血症患儿的基因检测结果,探索甘肃省甲基丙二酸血症的临床分型及基因突变位点。结果甘肃省妇幼保健院新生儿疾病筛查中心2018年1月-2021年12月共筛查213786例新生儿干血斑样本,确诊甲基丙二酸患儿22例,发病率为1/9718;对25例甲基丙二酸患儿(新生儿疾病筛查中心20例、临床儿科5例)进行基因检测,共鉴定出MMUT、MMAA和MMACHC 3个基因31个突变位点。MMUT基因c.323G>A(9.09%)、c.917C>T(9.09%)、c.494A>G(9.09%)和c.984delC(9.09%)突变以及MMACHC基因c.609G>A(46.15%)、c.567dupT(11.54%)、c.80A>G(7.69%)和c.394C>T(7.69%)突变较为常见;单纯型12例(48%),合并型13例(52%)。结论甲基丙二酸血症在甘肃省新生儿群体中有较高的发病率、病死率;合并型甲基丙二酸血症占比略高;MMUT、MMAA和MMACHC基因突变位点的发现,可为甘肃省后续开展遗传代谢病基因筛查、遗传咨询及产前诊断提供理论基础。
Objective To investigate the incidence,gene mutation spectrum and prognosis of methylmalonic acidemia in Gansu Province.Methods Retrospective analysis of the screening and diagnostic results of genetic and metabolic diseases of newborn samples submitted by the Neonatal Disease Screening Center of Gansu Provincial Maternal and Child Health Care Hospital from January 2018 to December 2021 in various regions,states and cities indicated that the incidence rate of methylmalonic acid in Gansu Province.According to the genetic testing results of children with methylmalonic acid confirmed by the Neonatal Disease Screening Center and Clinical Pediatrics,the clinical typing and gene mutation sites of methylmalonic acid in Gansu Province were explored.Results In the past 4 years,a total of 213786 samples of neonatal dry blood spots were screened by the Neonatal Disease Screening Center,and 22 cases were diagnosed with methylmalonic acid,with an incidence rate of 1/9718.A total of 31 mutation sites of MMUT,MMAA and MMACHC genes were identified by genetic testing in 25 children with methylmalonic acid(20 cases in Neonatal Disease Screening Center and 5 in Clinical Pediatrics).MMUT gene c.323G>A(9.09%),c.917C>T(9.09%),c.494A>G(9.09%)and c.984delC(9.09%),and MMACHC gene c.609G>A(46.15%),c.567dupT(11.54%),c.80A>G(7.69%)and c.394C>T(7.69%)were common.There were 12 cases(48%)of simple type and 13(52%)of complicated type.Conclusion Methylmalonic acidemia has a high incidence and fatality rate in newborn population in Gansu Province.The proportion of combined methylmalonic acidemia was slightly higher.The discovery of MMUT,MMAA and MMACHC gene mutation sites can provide a theoretical basis for genetic screening,genetic counseling and prenatal diagnosis of genetic metabolic diseases in Gansu Province.
作者
王兴
刘芙蓉
张钏
陈雪
郝胜菊
李修晶
Wang Xing;Liu Furong;Zhang Chuan;Chen Xue;Hao Shengju;Li Xiujing(Gansu Provincial Key Laboratory of Birth Defect Prevention and Control,Gansu Province Maternal and Child Health Care Hospital,Lanzhou 730050,China)
出处
《兰州大学学报（医学版）》
2023年第6期72-76,共5页
Journal of Lanzhou University（Medical Sciences）
基金
甘肃省科技计划资助项目-民生科技专项-社会发展专题(20CX4FA003)
甘肃省卫生健康行业科研资助项目(GSWSKY2020-39)。
关键词
新生儿疾病筛查
遗传代谢病
甲基丙二酸血症
基因分型
neonatal disease screening
genetic metabolic disease
methylmalonic acidemia
genotyping
