线粒体基因m.3700G>A突变作为线粒体疾病发生筛查位点的可靠性评估

doi:10.3969/j.issn.1673-8640.2017.04.004

检验医学 ›› 2017, Vol. 32 ›› Issue (4): 262-266.DOI: 10.3969/j.issn.1673-8640.2017.04.004

• 二代测序技术的临床应用专题 • 上一篇下一篇

线粒体基因m.3700G>A突变作为线粒体疾病发生筛查位点的可靠性评估

徐冰¹, 傅庆子¹, 杨艳玲², 沈丽君¹

1.温州医科大学检验医学院生命科学学院,浙江温州 325000
2.北京大学第一医院,北京 100034

收稿日期:2016-08-11 出版日期:2017-04-20 发布日期:2017-05-01
作者简介:null
作者简介：徐冰,女,1990年生,硕士,主要从事线粒体疾病研究。

通讯作者：沈丽君,联系电话：0577-86699656。
基金资助:
浙江省自然科学基金资助项目（LY15H060007）

Reliability of m.3700G>A mutation as screening locus for mitochondrial disease

XU Bing¹, FU Qingzi¹, YANG Yanling², SHEN Lijun¹

1. School of Laboratory Medicine and Life Science,Wenzhou Medical University,Wenzhou 325000,Zhejiang,China
2. Peking University First Hospital,Beijing 100034,China

Received:2016-08-11 Online:2017-04-20 Published:2017-05-01

摘要/Abstract

摘要：

目的探讨线粒体还原型烟酰胺腺嘌呤二核苷酸-脱氢酶亚基1（ND1）基因m.3700G>A突变在线粒体疾病,尤其是Leber遗传性视神经病发生中的作用。方法分别构建含m.3700G以及m.3700A碱基的胞质融合细胞各2株。通过测定线粒体内三磷酸腺苷（ATP）生成、呼吸链复合体酶活性以及酶复合体含量、线粒体内活性氧分子（ROS）的变化评估m.3700G>A变异对线粒体功能的影响。结果 m.3700G>A并不影响线粒体氧化磷酸化复合体Ⅰ的功能,相应的线粒体ATP生成以及ROS均不受影响。结论 m.3700G>A变异并非线粒体疾病发生的致病突变位点,该突变位点不应列为线粒体疾病基因检测的筛查位点。

关键词: 线粒体基因, 线粒体疾病, 氧化磷酸化, 基因突变

Abstract:

Objective To evaluate the role of nicotinamide-adenine dinudeotid-dehydrogenase subunit 1 （ND1）gene m.3700G>A mutation for mitochondrial disease,especially Leber's hereditary optic neuropathy. Methods Mitochondrial adenosine triphosphate（ATP） generation,respiratory chain complex activity and steady state level and the level of reactive oxygen species （ROS） were determined in cybrids with m.3700G and m.3700A. Results Mitochondrial oxidative phosphorylation complex Ⅰ was not affected in cells with mutation of m.3700G>A. Mitochondrial ATP generation and the level of ROS were not affected as well. Conclusions The mutation of m.3700G>A might not be related with mitochondrial disease. Therefore,the screening of m.3700G>A mutation is not advised.

Key words: Mitochondrial gene, Mitochondrial disease, Oxidative phosphorylation, Gene mutation

中图分类号:

R446.7

徐冰, 傅庆子, 杨艳玲, 沈丽君. 线粒体基因m.3700G>A突变作为线粒体疾病发生筛查位点的可靠性评估[J]. 检验医学, 2017, 32(4): 262-266.

XU Bing, FU Qingzi, YANG Yanling, SHEN Lijun. Reliability of m.3700G>A mutation as screening locus for mitochondrial disease[J]. Laboratory Medicine, 2017, 32(4): 262-266.

图/表 3

参考文献 15

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线粒体基因m.3700G>A突变作为线粒体疾病发生筛查位点的可靠性评估

Reliability of m.3700G>A mutation as screening locus for mitochondrial disease

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