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Wang Ying - One of the best experts on this subject based on the ideXlab platform.

  • Virulence Gene Mutation Assay in Dentinogenesis Imperfecta Type II
    Journal of Oral Science Research, 2009
    Co-Authors: Wang Ying
    Abstract:

    Objective: To study the location of pathogenic gene in Dentinogenesis Imperfecta type II,and to analyze the mutation of DSPP promoter and DSP gene.Methods: PCR and DNA sequencing were employed to detect the possible mutations in DSPP promoter and DSP coding sequence. Results: Three single nucleotide polymorphisms(SNPs) were found in DSP coding sequence.Two were samesense SNPs and one was missense SNP.Conclusion: No mutation was found in DSPP promoter and DSP coded region of this DGI-II family.

  • Pathogenic gene linkage analysis and DMP1 gene mutation assay in Dentinogenesis Imperfecta type II
    Chinese Journal of Conservative Dentistry, 2001
    Co-Authors: Wang Ying
    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,Z max =2.76(θ=0.1); D4S1534,Z max =1.65(θ=0); GATA62A11,Z max =7.63(θ=0); DSP,Z max =6.06(θ=0); DMP1,Z max =8.24(θ=0); SPP1,Z max =8.39(θ=0); D4S1563,Z max =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. [

Changchun Qiu - One of the best experts on this subject based on the ideXlab platform.

Lan-ying Chen - One of the best experts on this subject based on the ideXlab platform.

  • Mutation analysis of a Chinese family with genetic Dentinogenesis Imperfecta
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
    Co-Authors: Hong-bo Zhang, Lan-ying Chen
    Abstract:

    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. Key words: linkage analysis;  restriction fragment length polymorphism;  pathogenic gene; mutation analysis;  Dentinogenesis Imperfecta;  DSPP gene

  • A novel DSPP mutation is associated with type II Dentinogenesis Imperfecta in a chinese family
    BMC medical genetics, 2007
    Co-Authors: Xianqin Zhang, Lan-ying Chen, Jing Yu Liu, Zhen Zhao, Xiaotao Wang, Wei Chang, Qing Kenneth Wang, Mugen Liu
    Abstract:

    Background Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD) (types I and II) and Dentinogenesis Imperfecta (DGI) (types I, II, and III). Type II DGI is one of the most common tooth defects with an autosomal dominant mode of inheritance. One disease-causing gene, the dentin sialophosphoprotein (DSPP) gene, has been reported for type II DGI.

Wu Li-geng - One of the best experts on this subject based on the ideXlab platform.

  • Mutation analysis of disease gene DSPP in Dentinogenesis Imperfecta Shields type II
    Chinese Journal of Conservative Dentistry, 2004
    Co-Authors: Wu Li-geng
    Abstract:

    AIM:To identify the disease gene dentin sialophosphoprotein(DSPP)mutation in another Tianjin family of the Hui nationality with Dentinogenesis Imperfecta Shields typeⅡ and to find if there is a new DSPP mutation site with a view to elucidating further the correlation between genotype and phenotype.METHODS:Blood samples were collected from 10 affected and 8 unaffected family members and extracted the genomic DNAs.We designed primers in exon 3 and exon 4 of DSPP using Primer 3.0 program in order to perform nested PCR.PCR-direct sequencing technique was used,and RsaI digestion was also conducted after PCR amplification and analyzed by 20 g/L agarose gel electrophoresis.RESULTS:By direct sequencing PCR products,we found a C→T transition at nucleotide 3658 in DSPP.This mutation created a stop condon in exon 3(Gln45stop) and disrupted a RsaI site,which was subsequently used to identify mutation carriers in the family. We found the mutation to be heterozygous in all 10 affected individuals but not in the 8 unaffected members.CONCLUSION:Nonsense mutation in DSPP may influence severely the function of DSPP,and result in Dentinogenesis Imperfecta Shields typeⅡ.

Xiaohai Zhang - One of the best experts on this subject based on the ideXlab platform.

  • Chromosome localization of the Dentinogenesis Imperfecta type II locus
    Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology, 2002
    Co-Authors: Jun Zhao, Xiaohai Zhang, Zhi Jia, Qingsong Zhang, Xiaoyan Xing
    Abstract:

    OBJECTIVE To investigate the linkage between Dentinogenesis Imperfecta type II and chromosome 4q21 in a Tianjin-Tanggu family of the Hui nationality. METHODS Blood samples were collected from 13 family members. DNAs were analyzed with 8 STRP markers (D4S2915, D4S2932, GATA62A11, D4S2409, DSP STRP, SPP1 STRP, D4S1563, D4S1544) using fluorescence-based PCR. The linkage between eight markers on chromosome 4q21 and Dentinogenesis Imperfecta type II locus was tested respectively by lod score analysis. RESULTS Genotype and haplotype were acquired. Genetic linkage analysis demonstrated the maximum lod score of eight STRPs were all larger than zero, in which five of them were larger than 1. CONCLUSION The locus of Dentinogenesis Imperfecta type II in Chinese family is located on human chromosome 4q21, which indicated that the locus of Chinese Hui nationality should be the same as that of other reported European or American family.

  • DSPP mutation in Dentinogenesis Imperfecta Shields type II.
    Nature genetics, 2001
    Co-Authors: Xiaohai Zhang, Jun Zhao, Shan Gao, Changchun Qiu, Ping Liu, Boqin Qiang, Yan Shen
    Abstract:

    We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with Dentinogenesis Imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.