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面肩肱型肌营养不良症是一种临床表现多样的常染色体显性遗传病,4号染色体上FRG1、FRG2、ANT1基因为该疾病的有力候选基因。发病机制复杂,围绕系列候选基因转录水平的分析是目前研究的焦点,FRG1转基因小鼠模型的成功构建为基因转录异常学说提供了支持。4号染色体长臂的核内定位和亚端粒变异也与面肩肱型肌营养不良症的发病密切相关。
Facial and shoulder muscular dystrophy is a clinical manifestation of autosomal dominant genetic disease, chromosome 4 FRG1, FRG2, ANT1 gene as a strong candidate for the disease genes. The pathogenesis is complex. The analysis of the transcriptional level of candidate genes is the focus of current research. The successful construction of the FRG1 transgenic mouse model provides support for the gene transcription abnormality theory. The location and sub-telomere variation of the long arm of chromosome 4 are also closely related to the pathogenesis of facial and shoulder muscular dystrophy.