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Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF OBSTETRICS AND GYNECOLOGY
- Issue:
- 10
- DOI:
- 10.3760/j.issn:0529-567X.2006.10.007
- Key Word:
- 先兆子痫;酰基CoA脱氢酶,长链;突变
Abstract： 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.
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