Identification of a novel splice mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Liu-Hong; Jiang-De-Ke; Tian-Hong-Qing; Mang-Fu-Ren; Yu-Long

Zhonghua Pifuke Zazhi 41(3): 163-165

2008


Accession: 031780705

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Abstract
Objective To detect and validate the mutations of double-stranded RNA-specific adenosine deaminase (DSRAD) gene in a family with dyschromatosis symmetrica hereditaria. Methods Blood samples were collected from the members of a family with dyschromatosis symmetrica hereditaria, and genomic DNA was extracted. PCR and direct sequencing were performed to screen the mutations in DSRAD gene. Then, reverse transcription-PCR (RT-PCR) was used to confirm the characteristics of the mutations in non-canonical splice sites. Results A novel splice mutation, c.3021-2G > A, was identified in the 11th intron of the DSRAD gene. As shown by RT-PCR, the 12th exon was deleted, and a frameshift mutation occurred in the 13th exon. Conclusions The mutation identified in this study, c.3021-2G > A, in the 11th intron of DSRAD gene, can cause the abnormal splice of mRNA followed by the deletion of 12th exon and frameshift mutation in the 13th exon, and result in the development of dyschromatosis symmetrica hereditaria in this family.