Mutation Dectection Of Dystrophin Gene In A Chinese Family With One Member Affected With Duchenne Muscular Dystrophy

Objective:The objective of this research was to identify the genetic causes of Duchennemuscular dystrophy (DMD) in a Chinese consanguineous family with one individualaffected with DMD.Methods:We collected clinical information from a DMD pedigree. Subsequently,polymerasechain reaction(PCR) and DNA sequence analysis were used to detect the dystrophingene mutations. Meanwhile, we carried out the polymerase chain reaction-singlestrand conformation polymorphism(SSCP）analysis to determine if the mutation waspresent in126normal controls.Results:DNA sequencing analysis identified a missense heterozygous mutation (c.7303A>C) in exon48, resulting in a lysine to glutamine substitution at codon2366（p.Lys2366Gln）.Conclusions:The results revealed a unreported missense mutation（c.7303A>C）of thedystrophin gene in Chinese DMD patients.