The Duchenne and Becker muscular dystrophy gene and protein product dystrophin

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Abstract
In recent years, the molecular understanding of human inherited disorders has been advanced by the identification of genes and their protein products for diseases that had been defined only by clinical and pathologic descriptions. The practical implications of these findings are demonstrated by the progress in X-linked muscular dystrophy. Duchenne muscular dystrophy (DMD) is a severe muscle-degenerating disease that leads to death around the age of 20 years. It has a high mutation frequency (1 of 3500 live male births worldwide), and one third of patients are new cases with no previous family history. A less severe condition, known as Becker muscular dystrophy (BMD), is allelic to DMD, and mutations giving rise to both disorders were localized to the short arm of the human X chromosome in the cytogenetic band Xp21. The gene for DMD and BMD was isolated through the analysis of DNA from the Xp21 region (Monaco and Kunkel, Trends Genet 1987, 3:33-37). It is very large both in its organization along the chromosome (over 2 million base pairs) and in its amino acid coding potential (predicted molecular weight, 427 kD). The isolation of the gene and identification of its protein product, dystrophin, have facilitated accurate carrier detection and prenatal diagnosis of DMD and BMD and differential diagnosis with other neuromuscular diseases. Polyclonal antisera against dystrophin have provided evidence for its distribution and subcellular localization in muscle and for the study of animal models of dystrophin deficiency. Therefore, this review concentrates on two areas: 1) the gene sequence and predicted protein product, dystrophin, and 2) the implications of these findings for diagnosis and therapeutic potential

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