肉碱转运障碍携带者基因结果分析与疾病预防  

Genetic results analysis and disease prevention in the carriers of carnitine cycle disorders

作　　者：陈大宇[1] 谭建强[1] 杨金玲[1] 黄丽华[1] 廖滔[1] 黄钧 蔡稔 CHEN Dayu;TAN Jianqiang;YANG Jinling;HUANG Lihua;LIAO Tao;HUANG Jun;CAI Ren(Liuzhou Maternity and Child Healthcare Hospital,Liuzhou Institute of Reproduction and Genetics,Gynecology and Obstetrics Hospital and Children’s Hospital of Guangxi University of Science and Technology,Liuzhou,Guangxi 545001,China)

机构地区：[1]柳州市妇幼保健院/柳州市生殖与医学研究所/广西科技大学附属妇产医院、儿童医院,广西柳州545001

出　　处：《中国优生与遗传杂志》2021年第5期700-702,共3页Chinese Journal of Birth Health & Heredity

基　　金：柳州市科技重大专项项目(2018AF10501);广西壮族自治区卫计委项目(Z20190290)。

摘　　要：目的运用串联质谱与基因测序技术对柳州地区肉碱转运障碍携带者SLC22A5基因结果进行分析,了解本地区肉碱转运障碍携带者SLC22A5致病基因突变类型与频率,为该人群三级预防策略提供精准依据。方法选取2019年7—12月于柳州市妇幼保健院出生的正常新生儿疾病筛查样本2093例进行串联质谱及基因测序分析,确诊肉碱转运障碍对象,对其串联质谱结果及基因测序结果进行分析。结果在2093例SLC22A5基因测序结果中,确诊23例肉碱转运障碍携带者共7种SLC22A5致病基因突变类型。携带者串联质谱游离肉碱(C0)结果与正常新生儿差异有统计学意义(P<0.001)。结论柳州地区肉碱转运障碍携带者存在较高发生率以及多种突变类型,其串联质谱筛查指标游离肉碱与正常新生儿比较,差异有统计学意义,对该群体制定三级预防策略,应同时结合生化表型、临床表型及基因表型结果。Objective To analyze the results of SLC22A5 gene in carriers of primary carnitine deficiency in Liuzhou area by tandem mass spectrometry and gene sequencing,so as to understand the type and frequency of SLC22A5 gene mutation in carriers of primary carnitine deficiency in this area,so as to provide accurate basis for three-level prevention strategy.Methods 2093 normal neonatal disease screening samples from July to December 2019 were selected for tandem mass spectrometry and gene sequencing analysis,and the carriers of primary carnitine deficiency were diagnosed.The results of tandem mass spectrometry and gene sequencing were analyzed.Results Among the 2093 cases of SLC22A5 gene sequencing,23 cases of primary carnitine deficiency carriers were confirmed that they have 7 types of SLC22A5 pathogenic gene mutations.There was a significant difference in the results of free carnitine CO between carriers and normal newborns by tandem mass spectrometry(P<0.001).Conclusion Primary carnitine deficiency carriers had a high incidence and multiple mutation types in Liuzhou area.The screening index of free carnitine by tandem mass spectrometry was significantly different from that of normal newborns.The three-level prevention strategy for this population should be combined with biochemical phenotype,clinical phenotype and gene phenotype results at the same time.

关 键 词：肉碱转运障碍 携带者 SLC22A5 基因突变 

分 类 号：R722.1[医药卫生—儿科]