Abstract:

Objective: To detect the mutations in ARAD1 gene in one sporadic patient with dyschromatosis symmetrica hereditaria. Methods: Genomic DNA was extracted from peripheral blood of patient and 100 healthy controls. All exons of ADAR1 gene were amplified by polymorphism chain reaction (PCR) and the products were purified and directly sequenced to detect mutations. Results: A novel splice-site mutation c.3091+1G>T was identified in the junction of exon 11 and intron 11, which was not detected in controls. Potential protein function changes of the altered DNA sequence was detected by Mutation Taster and the result showed the splice-site mutation was a pathogenic mutation which might lead to the loss of catalytic structural domain. Conclusion: One novel splice-site mutation was identified, which further expand the database of ARAD1 mutations

Key words: dyschromatosis symmetrica hereditaria')">

dyschromatosis symmetrica hereditaria, splice site mutation, ADAR1 gene