SLC25A13 gene mutation screening in infants with intrahepatic cholestasis

CHEN Yun; WANG Lin-lin; CHEN Xiu-qi; TANG Qing; SHAN Qing-wen; HUANG Li; LIAN Shu-jun; YUN Xiang; GAO Guo-peng; WU Qiu-pin

Abstract：Objective To evaluate the SLC25A13 gene mutation in the pathogenesis of infants with intrahepatic cholestasis.Methods The genomic DNA was obtained from peripheral blood of 95 infants with intrahepatic cholestasis , who hospitalized in the department of pediatrics of the first affiliated hospital of Guangxi medical university from Oct .2011 to Mar.2012, as case group.Case group diagnosis was proven by blood amino acid mass chromatography analysis , and suspected citrin deficiency children were further proved with direct gene sequencing analysis .Fifty normal liver function infants without intrahepatic cholestasis were selected as control group .All exons of SLC25A13 gene were genotyped by pol-ymerase chain reaction single strand conformation polymorphism (PCR-SSCP) and DNA sequenced.The correlation be-tween the SLC25A13 gene and intrahepatic cholestasis in infants was analyzed .Results SLC25A13 gene mutation was found 4 patients;among whom 3 patients were found with abnormal blood amino acid mass chromatography , including 2 patients with homozygous mutation 851del4/851del4 and 1 patient with heterozygous mutation 851del4.Conclusion Ho-mozygous mutation 851del4/851del4 and heterozygous mutation 851del4 in SLC25A13 gene are revealed in infants with in-trahepatic cholestasis from Guangxi .A new mutation type P502L in patients without abnormal blood amino acid mass chro-matography analysis was reported .