| 摘要: |
| ［摘要］ 目的 探讨线粒体tRNALeu（UUR）基因3243位点A→G突变在广西地区妊娠期糖尿病患者所分娩的新生儿中发生的频率。方法 采用DNA测序技术，对广西地区50例妊娠期糖尿病产妇所分娩的新生儿和50名正常健康对照者分娩的新生儿进行线粒体tRNALeu（UUR）基因3243位点检测。结果 妊娠期糖尿病患者分娩的新生儿及正常对照者分娩的新生儿脐血中均未检测到线粒体tRNALeu（UUR）基因3243位点A→G突变。结论 线粒体tRNALeu（UUR）基因3243位点A→G突变尚不能作为该地区孕妇妊娠期糖尿病产前筛查的参考指标。 |
| 关键词: 妊娠期糖尿病 线粒体tRNALeu（UUR）基因3243位点 突变 产前筛查 新生儿 |
| DOI：10.3969/j.issn.1674-3806.2015.11.05 |
| 分类号:R 71 |
| 基金项目:广西医疗卫生重点科研课题（编号：重2010033）；广西自然科学基金资助项目（编号：2011GXNSFA018201） |
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| Detection of Mitochondrial tRNA Leu（UUR） Mutations at Position A3243G in Newborns of diabetic pregnant women in Guangxi |
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LI Ying, WANG Lin, QIN Ting, et al.
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Prenatal Diagnosis Center, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
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| Abstract: |
| ［Abstract］ Objective To investigate the frequencies of the mitochondrial tRNA Leu（UUR） mutations at position 3243A/G in newborns of diabetic pregnant women in Guangxi.Methods The point mutations of tRNA Leu（UUR）3243A/G in 50 newborns of diabetic pregnant women and 50 newborns healthy controls were detected by DNA sequencing.Results No one carrying the mitochondrial tRNA Leu（UUR）3243A/G mutation was found in the two groups.Conclusion The mitochondrial tRNA Leu（UUR）3243A/G mutation may not yet be an important genetic predisposing factor of prenatal screening for gestational diabetes mellitus in Guangxi. |
| Key words: Gestational diabetes mellitus Mitochondrial tRNA Leu（UUR）3243A→G Mutations Newborns Prenatal screening |
