Diagnostic techniques described in the study of Duchenne/Becker muscular dystrophy

作者：Montejo Pujadas Y; Zaldivar Vaillant T; Acevedo Lopez AM

来源：Revista de Neurologia, 2002, 34(3): 278-281.

• diagnosis
• DMD gene
• Duchenne muscular dystrophy
• dystrophin
• molecular techniques
• polymerase chain reaction

Introduction. Duchenne/Becker muscular dystrophy (DMD/B) is one of the commonest myopathies, with an incidence of 1/3,500 male live births. It is characterized by the slow degeneration of muscle fibres, so that the patient has become an in valid by the age of 10 years, followed by death from respiratory or cardiac failure. It has a sex-linked recessive mode of inheritance. Development. The gene causing this disorder is the DMD gene and is found on the short arm of the X chromosome, The commonest mutations of this gene are deletions. Many molecular techniques for study of the disorder have been developed over the years, These include the Southern Blot, polymerase chain reaction (PCR), use of the Short Tandem Repeat (SIR), polymorphic length restriction fragments (RFLP), Western Blot for the study of the protein and others. Conclusion. In this paper we review the diagnostic tests most widely used in this disease. These have permitted improved study of the various families affected and thus improved the quality of life of the families at risk.

• 出版日期2002-2-1