Genetic Diagnosis of 120 Suspected Cases with Duchenne/Becker Muscular Dystrophy

Objective Genetic diagnosis of 120 cases of suspected Duchenne/Becker muscular dystrophy(DMD/BMD) were carried out to investigate the distribution of DMD gene deletion within populations in Yunnan province.Methods Multiplex polymerase chain reaction(mPCR) was applied for deletion analysis of 18 exons of DMD gene with higher deletion frequency in 120 cases of suspected DMD/BMD(male,aged from 1 month to 14 years) who visited the Genetic Diagnosis Center of the First People′s Hospital of Yunnan Province from Jan.2004 to Mar.2010.Distribution of DMD gene exon deletion was summarized consequently.Results Sixty-one of 120 cases had detected DMD exon deletions.Further analysis showed that 18.97% of gene exon deletions located in 5′-flanking region,81.03% located in central region.Thirty-two cases of 59 cases who had not been detected exon deletion were subjected to follow-up.Among them,24 cases were diagnosed as DMD according to clinical manifestation and laboratory data,DMD could be excluded for the rest 8 cases.Furthermore,27 cases of 59 cases who had not been detected exon deletion were unavailable for follow-up or could not be diagnosed as DMD.Conclusion Exon deletion occurred mostly in the central region of DMD gene within populations in Yunnan province.Clinical follow-up plays an important role in clinical diagnosis of suspected cases of DMD/BMD after genetic test.