Genotype-phenotype correlation in Duchenne/Becker muscular dystrophy patients seen at Lucknow

Abstract

The molecular basis of two allelic forms of muscular dystrophy, Duchenne (DMD) and Becker (BMD), has been explained by frame shift hypothesis. In order to test this hypothesis, deletional mutations in 59 patients confirmed to have DMD and 11 BMD patients were analysed using multiplex polymerase chain reaction and Southern hybridization with dystrophin cDNA probes. Translational reading frame of the dystrophin gene was derived from 'Border type' analysis of exons flanking the intragenic deletions. The correlation between genotype (reading frame) and phenotype (clinical severity) showed higher number of DMD patients (approximately 20%) deviating from the frame shift hypothesis. The patients who deviated had deletions at the central hot spot region of the dystrophin gene. The presence of these deviations in a large number of DMD patients highlights the difficulties in predicting the clinical progression of the disease based only on DNA profile.