CAJ | 학술논문

对吉林省内5岁以下儿童的6种常见 SLC25 A13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SLC25 A13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。
대길림성내5세이하인동적6충상견 SLC25 A13기인돌변적휴대솔진행조사분석。방법려지편법류취길림대학제이의원인과비간장질병주술、년령소우5세적환인혈양160빈,채용기인소묘(GeneScan)방법검측3충상견적SLC25A13기인적결실/삽입돌변,SnaPshot방법검측3충상견적단감기치환돌변。결과재160빈양품중,발현1례851del4잡합휴대자,휴대솔1/160,여이왕보도적중국인군휴대솔차이무통계학의의。결론채용려지편법류취말소혈양,GeneScan방법화 SnaPshot 방법검측6충상견 SLC25A13기인돌변간편가행；길림성인동적SLC25 A13기인돌변휴대솔가능여전국평균휴대솔상동,가확대양품량진일보연구증실。
Objective To evaluate the frequency of six common mutations carrier rates identified in the SLC25A13 gene of children younger than five years in Jilin Province.Methods Totally 160 dried 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 851del4 was 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 SLC25A13 with the dried spot blood specimens by the method of GeneScan and SnaPshot.The frequency of SLC25A13 in Jilin cohort might equal to the average frequency in China,which awaits for further test with more specimens.