The genetic understanding of the muscular dystrophies has advanced considerably in the last two decades. Over 25 different individual genes are now known to produce muscular dystrophy, and many different "private" mutations have been described for each individual muscular dystrophy gene. For the more common forms of muscular dystrophy, phenotypic variability can be explained by precise mutations. However, for many genetic mutations, the presence of the identical mutation is associated with marked phenotypic range that affects muscle function as well as cardiac function. The explanation for phenotype variability in the muscular dystrophies is only now being explored. The availability of genetically engineered animal models has allowed the generation of single mutations on the background of highly inbred strain. Phenotypic variation that is altered by genetic background argues for the presence of genetic modifier loci that can ameliorate or enhance aspects of the dystrophic phenotype. A number of individual genes have been implicated as modifiers of muscular dystrophy by studies in genetically engineered mouse models of muscular dystrophy. The value of these genes and products is that the pathways identified through these experiments may be exploited for therapy.

译文

在过去的二十年中,人们对肌肉营养不良的遗传学认识有了很大的提高。现在已知产生肌营养不良症的超过25个不同的个体基因,并且对于每个个体肌营养不良症基因已经描述了许多不同的“私人”突变。对于更常见的肌肉营养不良形式,表型变异性可以通过精确的突变来解释。然而,对于许多遗传突变,相同突变的存在与影响肌肉功能以及心脏功能的显着表型范围有关。肌肉营养不良症的表型变异性的解释目前才被探索。基因工程动物模型的可用性允许在高度近交系的背景下产生单个突变。由遗传背景改变的表型变异主张存在可以改善或增强营养不良表型方面的遗传修饰基因座。通过对肌营养不良症的基因工程小鼠模型的研究,许多个体基因被认为是肌营养不良症的修饰因子。这些基因和产物的价值在于通过这些实验确定的途径可用于治疗。

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