北京大学学报（医学版）2005，Vol.37Issue(1)：26-31,6.
常见线粒体DNA病的分子遗传学研究进展
Molecular genetics of common mitochondrial DNA disorders
Lee-Jun C. WONG1
作者信息
- 1. Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington DC 20007,USA
- 折叠
摘要
Abstract
SUMMARY Diagnosis of mitochondrial disorders has been difficult due to the clinical and genetic heterogeneity, as well as unique features of mitochondrial genetics. Definitive diagnosis requires the identification of molecular defects in either the mitochondrial or the nuclear genome. We describe the clinical and molecular characteristic of some common mitochondrial syndromes and molecular methodologies available for the detection of mitochondrial DNA mutations. This review provides overview of current molecular diagnosis of mitochondrial DNA disorders that is useful in patient care and genetic counseling.关键词
线粒体疾病/DNA,线粒体/分子诊断技术/突变Key words
Mitochondrial disease/DNA,mitochondrial/Molecular diagnostic techniques/Mutation分类
医药卫生引用本文复制引用
Lee-Jun C. WONG..常见线粒体DNA病的分子遗传学研究进展[J].北京大学学报（医学版）,2005,37(1):26-31,6.
