摘要
目的分析新生儿高甲硫氨酸血症的筛查结果及MAT1A基因突变情况。方法选取2015年1月至2022年12月于枣庄市进行串联质谱遗传代谢病筛查的168694例新生儿作为研究对象,应用高通量测序技术结合Sanger测序法对筛查出的高甲硫氨酸血症新生儿相关致病基因进行检测,并对其核心家系成员进行基因分析。结果共检出3例高甲硫氨酸血症新生儿,发病率约为1/56231。3例高甲硫氨酸血症新生儿血浆甲硫氨酸浓度在筛查、治疗以及随访期间均较高,且均有MAT1A基因突变,其中2例为c.791G>A杂合突变,1例为c.163G>A和c.451C>A复合杂合突变;c.163G>A和c.451C>A突变为未见文献报道的突变。Sanger测序结果显示,高甲硫氨酸血症新生儿的突变均来自其父母。结论枣庄市新生儿高甲硫氨酸血症的发病率约为1/56231;基因检测检出MAT1A基因3种突变位点,包括c.791G>A、c.163G>A和c.451C>A突变。
Objective To analyze the screening results of hypermethioninemia in newborns and MAT1A gene mutation.Methods A total of 168694 newborns who underwent tandem mass spectrometry screening for genetic metabolic disease in Zaozhuang City from January 2015 to December 2022 were selected as the study objects.Highthroughput sequencing technology combined with Sanger sequencing was used to detect the pathogenic genes associated with neonatal hypermethioninemia after screening,and gene analysis was performed on the core family members.Results A total of 3 newborns with hypermethioninemia were detected,with an incidence of 1/56231.The plasma methionine concentration of 3 newborns with hypermethioninemia was higher during screening,treatment and follow-up,and all of them had MAT1A gene mutation,of whom 2 cases had c.791G>A heterozygous mutation,and 1 case had c.163G>A and c.451C>A complex heterozygous mutation.The mutations of c.163G>A and c.451C>A were not reported in the literature.Sanger sequencing showed that the mutations in hypermethioninemia newborns came from their parents.Conclusion The incidence of newborns with hypermethioninemia is about 1/56231 in Zaozhuang.Three mutation sites of MAT1A gene are detected,including c.791G>A,c.163G>A and c.451C>A mutations.
作者
赵妍
沈洁
ZHAO Yan;SHEN Jie(Department of Neonatal Disease Screening,Maternity and Child Health Care of Zaozhuang,Shandong Province,Zaozhuang 277000,China)
出处
《妇儿健康导刊》
2024年第19期62-65,86,共5页
JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE
