Detection of dystrophin gene mutation in a Chinese pedigree affected with Duchenne muscular dystrophy

Objective To identify mutations of dystrophin gene in a Chinese pedigree affected with Duchenne muscular dystrophy （DMD）. Methods Clinical data from the pedigree was collected. Subsequently, polymerase chain reaction and DNA sequencing analysis were applied to detect the potential mutations. Restriction enzyme digestion was carried out to determine whether the mutation was present in 118 healthy controls. Clustal software was applied for analyzing the conservation of altered amino acids. Results DNA sequencing analysis has identified a heterozygous missense mutation c. 7578G 〉C （p. Gln2526His） mutation in exon 52 of the dystrophin gene in the proband and his mother. The same mutation was absent in the 118 healthy controls. Restriction enzyme digestion has confirmed above result. Clustal analysis indicated that the altered amino acid is highly conserved in mammals. Conclusion The results revealed a novel missense mutation （c. 7578G〉C） of the dystrophin gene in DMD patients. Key words: Duchenne muscular dystrophy;  Dystrophin;  Missense mutation