Identification of the syrian hamster cardiomyopathy gene
Identification of the syrian hamster cardiomyopathy gene
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DOI：
10.1093/hmg/6.4.601
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发表时间：
1997-04-01
影响因子：
3.5
通讯作者：
Puca, GA
中科院分区：
文献类型：
--
作者：
Nigro, V;Okazaki, Y;Puca, GA
BIO14.6仓鼠是一种广泛使用的常染色体隐性心肌病模型。这些动物因进行性心肌坏死和心力衰竭而过早死亡。导致心肌病的主要遗传缺陷尚不清楚。最近，一个遗传连锁图谱将心肌病位点定位在仓鼠染色体9qa2.1-b1上，排除了几个候选基因。我们现在证明心肌病是由三角肌聚糖基因突变引起的，该基因与疾病位点有关。该突变与回交和FS家系的疾病完全一致。这构成了第一个确定用于人类肌糖原紊乱的动物模型。
The BIO14.6 hamster is a widely used model for autosomal recessive cardiomyopathy. These animals die prematurely from progressive myocardial necrosis and heart failure. The primary genetic defect leading to the cardiomyopathy is still unknown. Recently, a genetic linkage map localized the cardiomyopathy locus on hamster chromosome 9qa2.1-b1, excluding several candidate genes. We now demonstrate that the cardiomyopathy results from a mutation in the delta-sarcoglycan gene that maps to the disease locus. This mutation was completely coincident with the disease in backcross and FS pedigrees. This constitutes the first animal model identified for human sarcoglycan disorders.