妊娠急性脂肪肝患者线粒体三功能蛋白α-亚基G1528C变异的SNP分析

摘要

目的 通过单核苷酸多态性(single nucleotide polymorphism,SNP)分析评估中国人群中妊娠急性脂肪肝(acute fatty liver of pregnancy,AFLP)患者LCHAD G1528C变异与AFLP发病间的相关性.方法 1996年2月至2015年2月,首都医科大学附属北京地坛医院共收治AFLP患者52例,其中32例同意参与本研究.同时选取本院正常妊娠晚期孕妇、妊娠晚期合并慢性HBV携带孕妇各32例为对照组.分别留取抗凝外周血,提取基因组DNA.以基因组DNA为模板,使用目标基因引物进行PCR扩增,通过测序及SNP分析等检测是否存在G1528C变异.结果 对全部标本的G1528C位点进行分析后均未发现G1528C变异.结论 线粒体三功能蛋白α-亚基G1528C变异可能并非中国人群AFLP患者的发病机制,需进行更进一步研究.%Objective To investigate the correlation between LCHAD G1528C variation and acute fatty liver of pregnancy (AFLP) in Chinese patients by single nucleotide polymorphism (SNP) analysis.Methods Total of 52 patients with AFLP were discharged in Beijing Ditan Hospital,Capital Medical University from February 1996 to February 2015.Among them,32 cases agreed to participate in this research.At the same time,normal pregnant women (32 cases) and stable chronic hepatitis B pregnant patients (32 cases) were enrolled as control groups.Coagulated peripheral blood were extracted in all patients for extraction of genomic DNA.Genomic DNA was used as template to amplify PCR with target gene primers and G1528C mutation was detected by sequencing and SNP analysis.Results SNP analysis of G1528C in all patients showed no G 1528C mutations.Conclusion Mitochondrial trifunctional protein alpha-subunit may not be the mechanism of Chinese AFLP patients and further research is needed.