Dystrophin, its gene, and the dystrophinopathies.

摘要: Publisher Summary This chapter provides an overview of a cytoplasmic protein—dystrophin. The discusses the identification, structure, and regulation dystrophin gene. gene itself, with its absurd size extraordinary complexity structure transcriptional poses significant challenge to geneticists. It has unusual mutational spectrum shaping novel strategies for prenatal carrier diagnosis. protein provided insight into previously unsuspected system membrane-associated proteins ultimately reveals molecular basis essential biological function. also focuses on Duchenne Becker muscular dystrophy (DMD BMD). (BMD) shares many features DMD but much milder course. Diagnosis is generally before age 25 patients are often able walk well adulthood. spectra BMD not only convey information regarding biology protein, determine nature diagnostic strategies.