桂中地区原发性肉碱缺乏症基因测序精准检测及研究

Precision testing and research of primary carnitine deficiency in Central Guangxi

目的通过对桂中地区原发性肉碱缺乏症分子基因测序结果分析,研究该地区原发性肉碱缺乏症的发生率及基因突变类型,为临床提供诊疗依据。方法通过检测分析新生儿疾病筛查40168例串联质谱结果,对疑似原发性肉碱缺乏症对象,进一步应用测序手段对SLC22A5基因进行检测确诊。结果确诊13例患儿10种突变类型,包括10例PCD患者,杂合突变携带者3例。其中不乏新发突变类型。结论原发性肉碱缺乏症在桂中地区存在较高发生率以及多种突变类型,通过基因分子精准检测,为临床提供更准确实验室依据及疾病诊疗方向。

Objective：Research the incidence of primary carnitine deficiency and the types of gene mutations in primary area of carnitine deficiency in Central Guangxi,and to provide evidence for clinical diagnosis and treatment. Methods：Through the detection and analysis of 40168 cases of neonatal screening for SLC22 A5,the suspected primary carnitine deficiency subjects were further diagnosed by sequencing. Results：There were 10 types of mutation in 13 cases,including 10 PCD patients and 3 heterozygous carriers. There are no lack of new mutation types. Conclusion：Primary carnitine deficiency has high incidence and multiple mutation types in this area. It can provide more accurate laboratory evidence and disease diagnosis and treatment direction for clinic by precise detection of gene molecules.