吉林省儿童6种常见SLC25A13基因突变携带率的调查研究

Survey on carrier rates of six common SLC25A13 gene mutations in children of Jilin Province

目的对吉林省内5岁以下儿童的6种常见SLC25A13基因突变的携带率进行调查分析。方法滤纸片法留取吉林大学第二医院儿科非肝脏疾病主述、年龄小于5岁的患儿血样160份,采用基因扫描(GeneScan)方法检测3种常见的SLC25A13基因的缺失/插入突变,SnaPshot方法检测3种常见的单碱基置换突变。结果在160份样品中,发现1例851del4杂合携带者,携带率1/160,与以往报道的中国人群携带率差异无统计学意义。结论采用滤纸片法留取末梢血样,GeneScan方法和SnaPshot方法检测6种常见SLC25A13基因突变简便可行;吉林省儿童的SLC25A13基因突变携带率可能与全国平均携带率相同,可扩大样品量进一步研究证实。

Objective To evaluate the frequency of six common mutations carrier rates identified in the SLC25A13gene of children younger than five years in Jilin Province.Methods Totally 160dried spot blood specimens of children were collected in Department of Pediatrics,the Second Hospital of Jilin University.The excluded criteria were complications of liver symptoms complaints and children older than five years.The GeneScan method was used to detect three common deletion/insertion mutations and the SaPshot method was used for simultaneous detection of three single-base substitutions.Results One carrier of 851del4was detected in the cohort with the frequency of 1/160,consistent with previous report.Conclusion It is simple and practicable to test the common six kinds of mutations in SLC25A13with the dried spot blood specimens by the method of GeneScan and SnaPshot.The frequency of SLC25A13in Jilin cohort might equal to the average frequency in China,which awaits for further test with more specimens.