妊娠期急性脂肪肝关键酶长链脂肪酸氧化酶编码基因突变在我国汉族人群中的表现

Role of the mutations in the encoding gene mutations of long chain-3-hydroxyacyl CoA dehydrogenase enzymes in the pathogenesis of acute fatty liver of pregnancy

目的研究我国汉族人群患妊娠期急性脂肪肝(AFLP)的产妇及其新生儿线粒体脂肪酸氧化代谢中的线粒体三功能蛋白酶(MTP)ɑ亚单位的长链三羟基酰基辅酶A脱氢酶(LCHAD)G1528C及C1132T位点的突变情况。方法应用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)分析12组AFLP的产妇外周血和/或脐血/新生儿外周血MTPα亚单位编码基因中G1528C及C1132T位点的突变情况。结果 12组AFLP患者血标本MTPα亚单位的G1528C及C1132T位点经检测后,未见基因突变。结论西方人种患AFLP者中常见的MTPα亚单位的G1528C及C1132T位点突变可能不是中国人种AFLP患病的常见的突变位点,MTP缺陷存在种族差异。

Objective to research whether AFLP patients with Han nationality in Chinese have the common mutation G1528C and C1132T in LCHAD which plays roles in the mitochondrial trifunctional protein （MTP）. Methods 12 cases of cord blood samples,peripheral blood;from women and their infants were taken in pregnant women with Han nationality in Chinese. PCR-RFLP analysis was conducted for detection of G1528C mutation and C1132T. Results No G1528C and C1132T mutations in LCHAD gene were found in these study subjects. Conclusion G1528C and C1132T are probably not the common prevalent mutation in MTP gene in Chinese people. It has different prevalent mutation in MTP between Chinese and Western white people.