Identification of Two DSRAD Gene Mutations in Two Families with Dyschromatosis Symmetrica Hereditaria

Objective To detect the mutations of the DSRAD gene in two families with DSH.Methods Peripheral blood from two families with DSH and 100 normal healthy Chinese were extracted and used to amplify all exons of the DSRAD gene and sequence by PCR,comparing the results with the sequences from the Genebank. Results Two missense mutations(c.G2747A and c.C3124T,the latter is novel) were identified in two families,which were not found in unaffected members in families and the control.Conclusion Two mutations in the DSRAD gene were identified in two DSH families,and they may result in the alteration of the structure and function of the DSRAD.