宿迁地区新生儿氨基酸代谢病串联质谱筛查及基因突变分析  

Analysis on tandem mass spectrometry of amino acid metabolic diseases and gene mutation in neonates in Suqian region

作　　者：张虹 王静 包芹 王奕开 ZHANG Hong;WANG Jing;BAO Qin;WANG Yi-kai(Suqian Maternal and Child Health Care Hospital,Suqian,Jiangsu 223800,China;不详)

机构地区：[1]宿迁市妇幼保健院,江苏宿迁223800 [2]南京信息工程大学

出　　处：《中国妇幼保健》2023年第13期2458-2463,共6页Maternal and Child Health Care of China

基　　金：江苏省妇幼健康科研项目(F202161);江苏省宿迁市指导性科技计划项目(Z2021070)。

摘　　要：目的应用串联质谱技术对新生儿氨基酸代谢病进行筛查,对宿迁地区确诊为氨基酸代谢病的新生儿遗传特征、发病率、疾病谱、基因突变谱进行分析。方法分析2016年9月—2021年12月参加宿迁市新生儿疾病筛查的新生儿氨基酸串联质谱检测结果,筛选出符合条件的215263例样本进行统计学分析。结果发现7种氨基酸代谢病,共81例,其中苯丙氨酸羟化酶缺乏症占86.42%,是宿迁地区氨基酸代谢病中发病率最高的疾病;9种突变基因PAH、PTS、MAT1A、CBS、TAT、SLC25A13、OTC、ASS1、CPS1中发现76种不同的突变位点,包括一些热点突变,如在PAH基因中发现c.158G>A、c.728G>A、c.611A>G、c.331C>T、c.1197A>T、c.721C>T、c.1068C>A突变,在SLC25A13基因中发现IVS16ins3kb突变。结论通过串联质谱筛查确定了宿迁地区新生儿氨基酸代谢病的遗传特征、发病情况、疾病谱及基因突变谱,为宿迁地区新生儿疾病筛查和遗传咨询、诊断工作提供了依据。Objective To screen amino acid metabolic diseases of neonates by applying tandem mass spectrometry,and analyze hereditary features,incidence rate,spectrum of diseases,and gene mutation spectrum of neonates diagnosed as amino acid metabolic diseases in Suqian region.Methods The results of tandem mass spectrometry of neonates in Suqian City from September 2016 to December 2021 were analyzed,a total of 215263 cases meeting the criteria were screened out for statistical analysis.Results Seven kinds of amino acid metabolic diseases were screened out,81 cases were included,phenylalanine hydroxylase deficiency accounted for 86.42%,which was the disease with the highest incidence rate of amino acid metabolic diseases;among 9 mutant genes(PAH,PTS,MAT1A,CBS,TAT,SLC25A13,OTC,ASS1,CPS1),76 mutation sites were found,including some mutational hotspots,such as c.158G>A,c.728G>A,c.611A>G,c.331C>T,c.1197A>T,c.721C>T,and c.1068C>A mutations in PAH gene,IVS16ins3kb mutation in SLC25A13 gene.Conclusion The hereditary features,prevalence,spectrum of disease,and gene mutation spectrum of amino acid metabolic diseases in neonates in Suqian region were determined by tandem mass spectrometry,which provides a basis for disease screening,hereditary consultation and diagnosis of neonates in Suqian region.

关 键 词：串联质谱技术 新生儿疾病筛查 氨基酸代谢病 基因突变 

分 类 号：R722.1[医药卫生—儿科]