中国肝脏病杂志(电子版)

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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

作者：熊号峰刘景院郭利民李传胜向攀蒲琳张铭

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出版年,卷(期):页码：2017,9(2):56-61

摘要：

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。

Abstract: 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 G1528C mutations. Conclusion Mitochondrial trifunctional protein alpha-subunit may not be the
mechanism of Chinese AFLP patients and further research is needed.

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