[基于聚合酶链反应检测卡恩斯-塞尔综合征中的异质性缺失线粒体DNA]
[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].
作者信息
Ramírez-Miranda A, Navas-Pérez A, Gurria-Quintana L, Vargas-Ortega J, Murillo-Correa C, Zenteno J C
机构信息
Instituto de Oftalmología Conde de Valenciana, México DF, Mexico.
出版信息
Arch Soc Esp Oftalmol. 2008 Mar;83(3):155-9. doi: 10.4321/s0365-66912008000300005.
OBJECTIVE
To describe the clinical data and the results of molecular analyses of the mitochondrial DNA in a patient with Kearns-Sayre Syndrome.
METHODS
Molecular analyses of mitochondrial DNA from the patient included PCR amplification of a region where the common Kearns- Sayre deletion is located and Genotype-Phenotype correlations are discussed.
RESULTS
The affected patient showed ptosis, progressive external ophthalmoplegia, pigmentary changes in the peripheral retina and right bundle block. Molecular analysis disclosed a approximately 5 kb deletion in the mitochondrial DNA and some wild type mtDNA indicating heteroplasmy.
CONCLUSIONS
Molecular analysis of mitochondrial DNA confirmed the clinical diagnosis of Kearns-Sayre syndrome. PCR provides a rapid method to identify the common 4997 bp deletion in Kearns-Sayre syndrome. In such cases, PCR diagnosis could avoid invasive methods such as muscle biopsy or spinal tap.
目的
描述一名患有卡恩斯-塞尔综合征患者的临床数据及线粒体DNA的分子分析结果。
方法
对该患者的线粒体DNA进行分子分析，包括对常见卡恩斯-塞尔缺失所在区域的PCR扩增，并讨论基因型与表型的相关性。
结果
该患病患者表现为上睑下垂、进行性眼外肌麻痹、周边视网膜色素改变及右束支传导阻滞。分子分析显示线粒体DNA存在约5 kb的缺失以及一些野生型线粒体DNA，表明存在异质性。
结论
线粒体DNA的分子分析证实了卡恩斯-塞尔综合征的临床诊断。PCR提供了一种快速鉴定卡恩斯-塞尔综合征中常见的4997 bp缺失的方法。在这类病例中，PCR诊断可避免采用侵入性方法，如肌肉活检或腰椎穿刺。
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