Pathogenic gene linkage analysis and DMP1 gene mutation assay in dentinogenesis imperfecta type Ⅱ
Abstract：AIM：To study the location of pathogenic gene in dentinogenesis imperfecta type Ⅱ,and to screen the mutation of DMP1 gene. METHODS: The families were analyzed with linkage studies using 7 highly polymorphic microsatellite DNA markers in the region of 4q21. PCR-SSCP and DNA sequencing were employed to detect the mutation of DMP1. RESULT: The maximum Lod scroes of the 7 markers were: D4S451,Zmax=2.76(θ＝0.1); D4S1534,Zmax=1.65(θ＝0); GATA62A11,Zmax=7.63(θ＝0); DSP,Zmax=6.06(θ＝0); DMP1,Zmax=8.24(θ＝0); SPP1,Zmax=8.39(θ＝0); D4S1563,Zmax=7.34(θ＝0) respectively. No mutation was detected in DMP1. CONCLUSION: The pathogenic gene of dentinogenesis imperfecta type Ⅱ is linked to GATA62A11,DSP,DMP1,SPP1 and D4S1563 in 4q21; excluding the DMP1 gene from a causative role in the pathogenesis of DGI-Ⅱ.
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Publication Date：2001-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 133-136 )