Bulfield G, Siller W G, Wight P A, Moore K J
Proc Natl Acad Sci U S A. 1984 Feb;81(4):1189-92. doi: 10.1073/pnas.81.4.1189.
An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy. The mutants show mild clinical symptoms and are viable and fertile. Linkage analysis with four X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chromosome. This gives a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equivalent genes on the human X chromosome.
已发现一种X染色体连锁的小鼠突变体(基因符号为mdx),其血浆中肌肉肌酸激酶和丙酮酸激酶水平升高,并表现出肌肉营养不良的组织学损伤特征。这些突变体表现出轻微的临床症状,且能存活并繁殖。对四个X染色体位点进行连锁分析表明,mdx定位于小鼠X染色体的Hq Bpa区域。这给出了mdx-Tfm-Pgk-1-Ags的基因顺序,与人类X染色体上的等效基因顺序相同。