论文部分内容阅读
目的分析citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)患儿SLC25A13基因突变特点。方法抽取42例胆汁淤积性肝病患儿血液DNA,应用PCR扩增和测序进行SLC25A13基因突变分析。结果 7例患儿诊断为NICCD,其中2例患儿为纯合突变,均为c.851_854delGTAT(p.Met284fs)/c.851_854delGTAT(p.Met284fs);其它5例患儿为复合杂合突变,分别为c.851_854delGTAT(p.Met284fs)/c.754G>A(p.Glu252Lys);g.IVS11+1G>A/g.IVS16ins3kb;c.851_854delGTAT(p.Met284fs)/g.IVS6+5G>A;c.G1064G>A(p.Arg355Gln)/c.G1157G>T(p.Gly386Val);c.1078C>T(p.Arg360Term)/c.IVS4+6A>G。结论 7例患儿的14个突变单链中,6个单链发生c.851_854delGTAT(p.Met284fs)突变,其在14个突变单链中的比率为42.8%(6/14),c.851_854delGTAT(p.Met284fs)为本组SLC25A13基因主要突变(42.8%)类型,基因检测分析有助于NICCD的诊断。
Objective To analyze the characteristics of SLC25A13 gene mutation in children with neonatal intrahepatic cholestasis (NICCD) caused by citrin deficiency. Methods Totally 42 children with cholestatic liver disease were enrolled in this study. The SLC25A13 gene mutation was analyzed by PCR amplification and sequencing. Results Seven patients were diagnosed as NICCD. Two of them were homozygous mutations, all of which were c.851_854delGTAT (p.Met284fs) /c.851_854delGTAT (p.Met284fs). The other five patients were complex heterozygous mutations, Respectively, c.851_854delGTAT (p.Met284fs) /c.754G> A (p.Glu252Lys); g.IVS11 + 1G> A / g.IVS16ins3kb; c.851_854delGTAT (p.Met284fs) /g.IVS6+5G> A ; c.G1064G> A (p.Arg355Gln) /c.G1157G> T (p.Gly386Val); c.1078C> T (p.Arg360Term) /c.IVS4+6A> G. Conclusion Among the 14 mutant single strands of 7 cases, c.851_854delGTAT (p.Met284fs) mutation occurred in 6 single strands and the ratio was 42.8% (6/14) in 14 mutant single strands. The c.851_854delpTAT (p.Met284fs) is the main type (42.8%) of the SLC25A13 gene in this group. Genotyping analysis is helpful for the diagnosis of NICCD.