[山西地区线粒体DNA 11778突变的Leber遗传性视神经病变患者的外显率]
[Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area].
作者信息
Zheng Mei-ling, Zhang Gui-lin, Hua Ai-ling, Zhang Yue-lian
机构信息
Department of Genetics, the First Hospital of Shanxi Medical University, Taiyuan, Shanxi, 030001 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):166-7.
OBJECTIVE
To analyze the penetrance of Leber hereditary optic neuropathy (LHON) individuals with mitochondrial DNA 11778 mutation in Shanxi.
METHODS
Allele-specific PCR was used to detect mtDNA 11778 mutation in LHON patients and their families.
RESULTS
In 17 families of the 30 families that harbored mtDNA 11778 mutation, only the probands were LHON patients. In the other 13 families, besides the probands, 72 maternal relatives carried mtDNA 11778 mutation.
CONCLUSION
The penetrance of LHON individuals with mtDNA 11778 mutation in the Shanxi area is 55.6%.
目的
分析山西地区线粒体DNA 11778突变的Leber遗传性视神经病变（LHON）患者的外显率。
方法
采用等位基因特异性PCR检测LHON患者及其家系中的线粒体DNA 11778突变。
结果
在携带线粒体DNA 11778突变的30个家系中的17个家系中，仅先证者为LHON患者。在其他13个家系中，除先证者外，72名母系亲属携带线粒体DNA 11778突变。
结论
山西地区线粒体DNA 11778突变的LHON患者的外显率为55.6%。
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