莱伯遗传性视神经病变：在携带3460 ND1突变的家族中，异质性可能在莱伯遗传性视神经病变的表达中起重要作用。
Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.
作者信息
Black G C, Morten K, Laborde A, Poulton J
机构信息
Department of Paediatrics, John Radcliffe Hospital, Headington, Oxford.
出版信息
Br J Ophthalmol. 1996 Oct;80(10):915-7. doi: 10.1136/bjo.80.10.915.
AIM
To assess the effect of heteroplasmy on the expression of Leber's hereditary optic neuropathy (LHON) in a large family with the 3460 LHON mutation.
METHODS
Mutation detection was performed by restriction enzyme digestion of polymerase chain reaction (PCR) products. Heteroplasmy was estimated by quantitation of wild type:mutant product ratios.
RESULTS
There is a significant association between levels of mutant mtDNA and manifestation of the disease phenotype.
CONCLUSION
As a high proportion of families with the 3460 mutation demonstrate heteroplasmy; this is likely to be a significant factor in disease expression.
目的
评估异质性对一个携带3460 Leber遗传性视神经病变（LHON）突变的大家庭中LHON表达的影响。
方法
通过聚合酶链反应（PCR）产物的限制性酶切进行突变检测。通过定量野生型：突变型产物比率来估计异质性。
结果
突变型线粒体DNA水平与疾病表型的表现之间存在显著关联。
结论
由于携带3460突变的家庭中有很大比例表现出异质性；这可能是疾病表达的一个重要因素。
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