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吉林省儿童6种常见SLC25 A13基因突变携带率的调查研究

Lei ZHANG,Dan ZHOU,Xiao-heng XU,Hui ZHAO,Si-jin ZHANG

Clinical Focus（2014）

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Abstract
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。
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Key words
cholestasis,intrahepatic,genetic testing,citrin deficiency,carrier frequency,SLC25A13
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