广西婴儿特发性肝内胆汁淤积SLC25A13基因突变的筛查  

Screening of SLC25A13 gene mutations in infants with idiopathic intrahepatic cholestasis in Guangxi

作　　者：伍秋频[1] 王琳琳[1] 陈秀奇[1] 唐清[1] 单庆文[1] 黄丽[1] 连淑君[1] 云翔[1] 高国鹏[1] 陈允[1] 

机构地区：[1]广西医科大学第一附属医院儿科,广西壮族自治区南宁市530021

出　　处：《世界华人消化杂志》2013年第12期1120-1125,共6页World Chinese Journal of Digestology

基　　金：广西自然科学基金资助项目;No.2011jjA40108~~

摘　　要：目的:对广西婴儿特发性肝内胆汁淤积的患者进行SLC25A13基因筛查,了解有无突变.方法:收集2010-09/2012-06就诊于广西医科大学第一附属医院的婴儿特发性肝内胆汁淤积的患者63例作为病例组,另选取50例无肝内胆汁淤积,肝功能正常的婴儿为对照组.病例组患者送检血串联质谱、尿气相质谱分析筛查,对串联质谱怀疑为Citrin病的病例全部直接进行DNA测序分析.同时对阴性病例组及对照组采用聚合酶链反应-单链构象多态性(polymerase chain reaction-single strand conformation polymorphism,PCR-SSCP)联合DNA测序技术对SLC25A13基因国内外报道最常见的12种热点突变进行筛查,了解有无SLC25A13基因突变.结果:在病例组进行蛋白质串联质谱分析有5例考虑为Citrin缺陷病,在进一步的DNA序列直接测序当中,未发现SLC25A13基因的12种常见突变.在其余病例组和正常组当中,PCR-SSCP筛查当中,均未发现相关的12种常见突变.结论:串联质谱分析考虑为Citrin缺陷病的5例患者、其余病例组患者及正常对照组当中均未发现SLC25A13基因常见的12种突变,广西婴儿特发性肝内胆汁淤积是否会存在SLC25A13基因的其他少见突变,仍需进一步的研究证实,包括纳入更多的样本研究及对其他未报道过的外显子进行研究.AIM： To screen SLC25A13 gene mutations in idiopathic infantile hepatitis cholestasis in Guangxi, China. METHODS： Sixty-three patients with idiopathic infantile cholestasis, who were hospitalized in the Department of Pediatrics of the First Affiliated Hospital of Guangxi Medical University from September 2010 to June 2012, and 50 infants without intrahepatic cholestasis were included in this study. Genomic DNA was prepared from peripheral blood of all subjects for further analysis. For the case group, Citrin deficiency was screened using the tandem mass spectrometry （MS-MS, using blood samples） and gas chromatography mass spectrometry （GC-MS, using urine samples）. Direct gene sequencing was performed in patients who were suspected to have Citrin deficiency. Twelve common SLC25A13 gene hot-spot mutations were screened by polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） in the remaining patients and controls. RESULTS： MS-MS and GC-MS analyses suggested that five patients were suspected to have Citrin deficiency, but the 12 common SLC25A13 gene hot-spot mutations were not detected in these patients in a further DNA sequencing analysis. The 12 common SLC25A13 gene hot-spot mutations were also not detected by PCR-SSCP in the remaining patients and controls. CONCLUSION： The 12 common SLC25A13 gene hot-spot mutations were not found in patients who were suspected to have Citrin deficiency and the other patients and controls. Other rare SLC25A13 gene mutations should be screened in more patients.

关 键 词：婴儿特发性肝内胆汁淤积 SLC25A13 NICCD 聚合酶链反应-单链构象多态性 

分 类 号：R725.7[医药卫生—儿科]