CAJ | 학술논문

目的：探讨citrin缺陷导致的新生儿肝内胆汁淤积症（NICCD）患儿的SLC25A13基因突变情况。方法选取17例确诊NICCD患儿，应用PCR-RFLP方法检测其SLC25A13基因中8种中国人最常见的突变，并结合常规实验室检查结果进行分析。结果17例患儿中，6例为SLC25A13基因纯合突变、3例为SLC25A13基因复合杂合突变，8例为SLC25A13基因单杂合突变。共检测出3种突变类型，分别为851del4（73.1%）、1638ins23（11.5%）和IVS6+5G>A（15.4%）。17例患儿的出生体质量偏低，存在病理性黄疸，实验室检查改变包括肝功能异常、高胆红素血症、高胆汁酸血症、低蛋白血症、低血糖、凝血功能障碍、高血乳酸和高血氨等，符合NICCD患儿的典型症状。结论851del4、1638ins23和IVS6+5G>A为中国人SLC25A13基因的突变热点。对于检测SLC25A13基因突变PCR-RFLP方法是一项便捷可靠的NICCD分子诊断技术。
목적：탐토citrin결함도치적신생인간내담즙어적증（NICCD）환인적SLC25A13기인돌변정황。방법선취17례학진NICCD환인，응용PCR-RFLP방법검측기SLC25A13기인중8충중국인최상견적돌변，병결합상규실험실검사결과진행분석。결과17례환인중，6례위SLC25A13기인순합돌변、3례위SLC25A13기인복합잡합돌변，8례위SLC25A13기인단잡합돌변。공검측출3충돌변류형，분별위851del4（73.1%）、1638ins23（11.5%）화IVS6+5G>A（15.4%）。17례환인적출생체질량편저，존재병이성황달，실험실검사개변포괄간공능이상、고담홍소혈증、고담즙산혈증、저단백혈증、저혈당、응혈공능장애、고혈유산화고혈안등，부합NICCD환인적전형증상。결론851del4、1638ins23화IVS6+5G>A위중국인SLC25A13기인적돌변열점。대우검측SLC25A13기인돌변PCR-RFLP방법시일항편첩가고적NICCD분자진단기술。
Objective To investigate SLC25A13gene mutation in neonatal intrahepatic cholestasis caused by citrin defi-ciency (NICCD). Method A total of 17 children with NICCD were collected. PCR-RFLP method was used to analyze the most common eight mutations of SLC25A13 gene in Chinese populations and results were analyzed together with routine laboratory examinations. Results In the 17 NICCD patients, there were six cases of homozygous mutation, three cases of compound heterozy-gous mutation and eight cases of single heterozygous mutation in SLC25A13 gene. Three kinds of mutations detected were 851del4 (73.1%), 1638ins23 (11.5%) and IVS6+5G>A (15.4%). The seventeen cases showed classical NICCD symptoms of low birth weight, pathological jaundice. And laboratory data suggested liver dysfunction, hyperbilirubinemia, hyperbileacidemia, hy-poproteinemia, hypoglycemia, coagulation disorders, hyperlactacidemia and hyperammonemia. Conclusions 851del4, 1638ins23 and IVS6+5G>A are hot spots of SLC25A13 gene mutation in Chinese populations. PCR-RFLP is a rapid, convenient and reliable technology for NICCD molecular diagnosis.