遗传性牙本质发育不全II型家系DSPP基因突变的检测与分析

目的: 对2个汉族遗传性牙本质发育不全II型家系中的DSPP基因突变进行检测。方法: 对2个遗传性牙本质发育不全II型( DGI-II) 家系的成员进行全身基本情况及口腔专科检查,拍摄口内照,全景片,以及牙片,采集外周静脉血并抽提基因组DNA,应用PCR及DNA 测序技术,结合序列分析方法,对2个家系共15名家系成员(其中患者10名)的外周静脉血基因组DNA牙本质涎磷蛋白(DSPP)基因1~5号外显子及其邻近序列进行序列分析。结果: 家系A中的患者在DSPP的第2外显子发生错义突变c.50C>T(p.P17L);家系B的患者在DSPP第4外显子发生错义核苷酸改变c.506A>G(p.D169G)。结论: DSPP基因突变可能是导致两个DGI-II家系发病的分子基础。关键词] 牙本质发育不全II型( DGI-II) 牙本质涎磷蛋白(DSPP) 基因突变

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

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.