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目的探讨线粒体三功能蛋白酶(MTP)α亚单位G1528C基因突变,在重度子痫前期及溶血、肝酶升高和低血小板计数(HELLP综合征)孕妇及其新生儿中的携带情况。方法北京地区汉族重度子痫前期(子痫前期组)孕妇及其新生儿130例(其中合并肝损害18例),HELLP综合征(HELLP组)孕妇及其新生儿10例,同期无妊娠期特发性肝损害等并发症及其他代谢性疾病的正常孕妇90例及新生儿560例作为对照组。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析3组孕妇外周血及其新生儿脐血中MTPα亚单位G1528C基因突变的携带情况。实验中阳性对照标准为西方白种人的G1528C杂合子标本。结果3组孕妇外周血及其新生儿脐血中的MTPα亚单位G1528C基因电泳图中均无与阳性对照标本中相应分子质量的条带出现。结论MTP的α亚单位G1528C基因突变可能不是北京汉族人种常见的突变位点;MTP缺陷在北京汉族人与西方白种人之间可能存在着种族差异。
Objective To investigate the mutation of mitochondrial trifunctional Proteinase (MTP) α subunit G1528C in pregnant women and their newborns with severe preeclampsia and hemolysis, elevated liver enzymes and low platelet counts (HELLP syndrome). Methods 130 pregnant women and their newborns in Han severe preeclampsia group (18 cases of preeclampsia group) and 18 neonates with HELLP syndrome (HELLP group) were enrolled in this study. 10 pregnant women and their newborns with HELLP syndrome, 90 cases of normal pregnant women with complications of liver damage and other metabolic diseases and 560 newborns as control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to analyze the mutation of MTPα subunit G1528C in peripheral blood of pregnant women and their neonates. In the experiment, the positive control standard was Western white G1528C heterozygous specimen. Results There was no band with the corresponding molecular mass in the positive control sample of G1528C gene of MTPα subunit in peripheral blood of pregnant women and cord blood of 3 newborn infants. Conclusions The mutation of G1528C in α subunit of MTP may not be a common mutation in Beijing Han population. The MTP deficiency may have racial differences between Beijing Han and West Caucasians.