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,对肌肉营养不良的遗传认识有了很大的进步。现在已知超过25个不同的单个基因会产生肌营养不良,并且已经针对每个单个肌营养不良基因描述了许多不同的 “私人” 突变。对于更常见的肌营养不良症,表型变异可以用精确的突变来解释。但是,对于许多基因突变,相同突变的存在与明显的表型范围有关,该表型范围会影响肌肉功能以及心脏功能。现在才探索对肌营养不良症表型变异的解释。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。由于遗传背景而改变的表型变异认为存在可以改善或增强营养不良表型的遗传修饰位点。通过对肌营养不良的基因工程小鼠模型的研究,许多单个基因被认为是肌营养不良的调节剂。这些基因和产物的价值在于,通过这些实验确定的途径可以用于治疗。

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