摘要
目的回顾分析石家庄市新生儿高甲硫氨酸血症筛查情况,了解其发病率及MAT1A基因突变情况。方法采用串联质谱技术-非衍生法检测滤纸干血斑中甲硫氨酸水平,对石家庄市149094例活产新生儿进行筛查,进一步采用二代测序技术对筛查阳性患儿进行MAT1A基因突变检测,Sanger测序验证。结果149094例新生儿中确诊13例高甲硫氨酸血症患儿,发病率为1/11469。13例患儿中除1例伴有血同型半胱氨酸升高外,其余12例患儿均为单纯性高甲硫氨酸血症患儿。9例单纯性高甲硫氨酸血症患儿进行了基因检测,结果发现均携带MAT1A基因突变,其中杂合突变7例;复合杂合突变1例;基因整体杂合缺失1例。基因突变分析发现点突变9种,其中文献已报道4种,分别为c.791G>A、c.769G>A、c.1070C>T和c.874 C>T;文献尚未报道5种,分别为c.1086-3C>G、c.712G>A、c.188G>T、c.757G>A和c.178T>C。结论石家庄市新生儿高甲硫氨酸血症发病率为1/11469;基因测序发现了5种未报道基因突变,丰富了数据库。
Objective To analyze the screening of neonatal hypermethionemia in Shijiazhuang City retrospectively,and to detect the incidence and MAT1A gene mutation.Methods A total of 149094 cases neonates born in Shijiazhuang were screened by tandem mass spectrometry-non-derivative method to detect the methionine concentration in dried blood spots of filter paper.Next-generation sequencing technology was used to detect positive children,and the MAT1A gene mutations were verified by Sanger sequencing.Results Among 149094 neonates,13 were confirmed positive,with an incidence of 1/11469.All 13 patients had isolated hypermethioninemia,except for 1 patient with elevated homocysteine.The mutations in the MAT1A gene were identified in 9 children with simple hypermethionine,including 7 heterozygous mutations,1 compound heterozygous mutation,and 1 loss of heterozygosis.Nine types of point mutations were found by gene sequencing,including 4 types that had been reported,namely,c.791G>A,c.769G>A,c.1070C>T and c.874C>T,and 5 types that had not been reported,namely,c.1086-3C>G,c.712G>A,c.188G>T,c.757G>A and c.178T>C.Conclusion The incidence of hypermethioninemia in neonates in Shijiazhuang is 1/11469;5 unreported gene mutations were found by gene sequencing,which enriched the database.
作者
封纪珍
贾立云
王熙
马翠霞
封露露
FENG Ji-zhen;JIA Li-yun;WANG Xi;MA Cui-xia;FENG Lu-lu(Newborn Disease Screening and Treatment Center, Shijiazhuang Maternal and Child Health Hospital, Hebei Province, Shijiazhuang 050051, China)
出处
《河北医科大学学报》
CAS
2021年第4期410-414,共5页
Journal of Hebei Medical University
基金
河北省医学科学研究重点课题(20191423)。
