Detection of DSRAD gene in a family with dyschromatosis symmetrica hereditaria

Abstract

Objective To detect the mutation of DSRAD gene in a family with dyschromatosis synunetrica hereditaria (DSH). Methods Based on family survey, blood samples were obtained from the proband and her parents, as well as from 100 unrelated normal human controls. The whole coding region of DSRAD gene was amplified by PCR followed by direct sequencing. Results There was a C to T change at position c3076 (c.3076C > T) in exon 12 of DSRAD gene, which leads to a substitution of arginine by tryptophane at position 1026 (p.R1026W), was detected in the proband and her affected mother, but not in the unaffected father or unrelated controls. Conclusions A missense mutation p.R1026W is detected in exon 12 of DSRAD gene in the family with DSH, which will expand the database on DSRAD gene mutations in DSH. Key words: Dyschromatosis symmetrica hereditaria; Genes, DSRAD/ADAR1; Mutation