重度子痫前期患者及其新生儿线粒体三功能蛋白酶α亚单位G1528C基因突变的研究  

Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant

作　　者：王荣[1] 杨孜[1] 朱锦明[1] 王伽略[1] 杨慧霞 王琪[3] 翟桂荣[3] 李智[4] 余梅[4] 

机构地区：[1]北京大学第三医院妇产科,100083 [2]第一医院妇产科 [3]首都医科大学附属北京妇产医院产科 [4]北京市海淀区妇幼保健院产科

出　　处：《中华妇产科杂志》2006年第10期672-675,共4页Chinese Journal of Obstetrics and Gynecology

基　　金：国家自然科学基金资助项目(30471821);首都医学科研发展基金资助项目(200223031)

摘　　要：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 Severe preeclampsia, and hemolysis, elevated liver enzymes, and low platelet syndrome （HELLP） are serious complications of pregnancy, and evidence suggests a genetic basis for these conditions. A G1528C mutation in the alpha-subunit of the mitochondrial trifunctional protein （MTP） gene has been identified in association with these conditions. The aim of this study is to explore the carrier rate of the G1528C mutation in the MTP gene in pregnant women with severe preeclampsia, HELLP syndrome and in their newborns, as well as in a normal pregnant population, so as to determine its association with maternal liver disease among women in Beijing. Methods A multicenter, prospective, case control study was carried out. Polymerase chain reaction - restriction fragment length polymorphism （PCR-RFLP） was used to screen the G1528C mutations in the MTP gene. One hundred and forty cord blood samples from cases with severe preeclampsia （n = 130） and HELLP syndrome （n = 10） were collected. Ninety maternal peripheral blood samples among them （84 from severe preeclampsia and 6 from HELLP syndrome） were also collected for screening the common dlsease-causing mutation in Caucasians. Five hundred and sixty cord blood samples and 90 maternal peripheral blood samples obtained from normal pregnant women served as controls. Results The G1528C mutations in the MTP gene were not found in samples from women with severe preeclampsia and their newborns, from women with HELLP syndrome and their new horns, as well as in samples from the normal pregnant women and their new horns. Conclusions The common dlsease-causing mutation of G1528C in MTP gene in Caucasians is probably not a common mutation in Chinese Han people in Beijing. Further study is needed to expand the sample size among HELLP syndrome and maternal liver diseases in Chinese population.

关 键 词：先兆子痫 酰基CoA脱氢酶 长链 突变 

分 类 号：R714.2[医药卫生—妇产科学]