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[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta]
Er-jun Qu1, Hong-bo Zhang, Lan-ying Chen
1Department of Biological Engineering, Henan University of Urban Construction, Pingdingshan, Henan, 467044, PR China.
Objective:
To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family.
Methods:
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.
Results:
The disease related gene was completely linked with microsatellite marker D4S1534. We found a novel mutation in the first exon of the DSPP gene (c.49C>T, p.Pro17Ser). 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.
Conclusion:
The p.Pro17Ser identified in the family was a new pathogenic mutation. Our finding provided further understanding of the molecular mechanism of dentinogenesis imperfecta.
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