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目的探讨特发性婴儿肝内胆汁淤积症患儿SLC25A13基因的突变情况。方法收集特发性婴儿肝内胆汁淤积症患儿95例作为病例组,另取50例无肝内胆汁淤积、肝功能正常的婴儿作为对照组。所有研究对象全为广西籍。病例组患儿送检血氨基酸质谱分析筛查,对筛查怀疑为Citrin缺乏症的7例全部行DNA测序分析。同时提取病例组其他患儿和对照组婴儿外周血DNA,采用聚合酶链反应-单链构象多态性和DNA测序技术检测SLC25A13基因上18个外显子基因,分析SLC25A13基因突变及突变类型。结果共检出SLC25A13基因突变4例。伴有瓜氨酸、蛋氨酸升高检出3例,包括851del4/851del4纯合突变2例,851del4杂合突变1例;不伴有瓜氨酸、蛋氨酸升高的新型突变P502L 1例。结论广西特发性婴儿肝内胆汁淤积症患儿SLC25A13基因存在851del4/851del4纯合突变,851del4杂合突变;并在不伴有血氨基酸质谱异常的患儿中发现国外未曾报道的新型突变P502L。
Objective To investigate the mutation of SLC25A13 gene in children with idiopathic infantile intrahepatic cholestasis. Methods Ninety-five children with idiopathic infantile intrahepatic cholestasis were enrolled as the case group. Another 50 infants with no intrahepatic cholestasis and normal hepatic function were used as the control group. All the research objects are all Guangxi nationality. The children in the case group were sent for blood amino acid mass spectrometry screening, and DNA sequencing analysis was performed on all seven cases of suspected Citrin deficiency. At the same time, peripheral blood DNA was extracted from other infants in the case group and the control group. 18 exon genes of SLC25A13 gene were detected by polymerase chain reaction - single strand conformation polymorphism and DNA sequencing. The mutations and mutations of SLC25A13 gene were analyzed. Results A total of 4 cases of SLC25A13 gene mutation were detected. Accompanied by citrulline, methionine increased in 3 cases detected, including 851del4 / 851del4 homozygous mutation in 2 cases, 851del4 heterozygous mutation in 1 case; not accompanied by citrulline, methionine mutations in the new mutation P502L 1 case. Conclusion There is 851del4 / 851del4 homozygous mutation and 851del4 heterozygous mutation in SLC25A13 gene of children with idiopathic infantile intrahepatic cholestasis of Guangxi. New mutation P502L that was not reported in foreign countries was found in children without abnormal amino acid profile.