Nhận xét các kiểu đột biến gen SL C25A13 gây bệnh vàng da do thiếu hụt Citrin ở trẻ em Việt Nam

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a novel metabolism disease which caused by deficiency of citrin, which's encoded by the SLC25A13 gene. Aim: Analyse phenotypes NICCD cases. Method: Prospective description study to detect common SLC25A13 mutations by genetic technology PCR/ PCR-RFLP. Result: 33 homozygous, 3 compound heterozygous and 5 cases heterozygous were detected in 77 mutant alleles with 4 mutations of SLC25A13 gene: 851del4, 1638ins23, IVS6+5GA and IVS16ins3kb. The mutant rate of 11.9 percent (77/684). The most common is mutation [I] (851deI4): 92.2 percent. The rate of mutation [III] (1638ins23): 5.2 percent, [X] (IVS6+5GA): 1.3 percent and mutation [XIX] (IVSl6ins3kb) 1.3 percent.