Mutations Detection and Analysis of the DSPP Gene in Two Chinese Families with Dentinogenesis Imperfecta Type II.

doi:10.13701/j.cnki.kqyxyj.2016.07.017

Abstract

Abstract: Objective: To detect and analyze the mutations of the DSPP gene in two Chinese families with Dentinogenesis Imperfecta type II (DGI-II). Methods: The general health status of family members with DGI-II was investigated. Oral specialized examination and radiological examination were performed. The peripheral venous blood of the probands and their families was collected. Genomic DNA was extracted, and DSPP gene was amplified by polymerase chain reaction (PCR). DNA sequences were analyzed. Results: Teeth discoloration, attrition, and obliterated pulp chambers showed in affected members of two families. A missense mutation c.50C>T (p.P17L) in family A and a missense alteration c.506A>G (p.D169G) in family B were identified in DSPP. Conclusion: The two mutations of DSPP gene are the molecular basis of the pathogenesis of two DGI-II families.

Key words: Dentinogenesis , Imperfecta type II (DGI-II) , DSPP , Mutation

CLC Number:

R596

YOU Yue-hua, DU Xin-ya, WU Bin, XIE Chun. Mutations Detection and Analysis of the DSPP Gene in Two Chinese Families with Dentinogenesis Imperfecta Type II.[J]. Journal of Oral Science Research, 2016, 32(7): 733-736.

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