[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta].

[dentinogenesis imperfecta]

To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family .The molecular change of the disease in the family was analyzed through the clinical examination , linkage analysis , mutational screening of the DSPP gene and restriction fragment length polymorphism analysis .The disease related gene was completely linked with microsatellite marker D 4 S 1534 . We found a novel mutation in the first exon of the DSPP gene (c .49 C >T , p .Pro 17 S er ). All patients in the family had the mutation , while this mutation was not observed in the normal individuals of this family and 100 unrelated controls .The p .Pro 17 S er identified in the family was a new pathogenic mutation . Our finding provided further understanding of the molecular mechanism of dentinogenesis imperfecta .