A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.
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DOI：
10.1186/1471-2350-11-23
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发表时间：
2010-02-10
影响因子：
--
通讯作者：
Qiu C
中科院分区：
文献类型：
--
作者：
Bai H;Agula H;Wu Q;Zhou W;Sun Y;Qi Y;Latu S;Chen Y;Mutu J;Qiu C
一些研究表明，牙本质形成的II型牙本质形成障碍（DGI-II）的临床表型可能是由牙本质涎磷蛋白（DSPP）突变引起的。然而，没有以前的研究记录的临床表型和遗传基础的DGI-II在蒙古族家庭从中国。我们发现了一个来自中国的五代蒙古人大家庭，其中包括64名在世的家庭成员，其中22人受到影响。利用DSPP基因侧翼的5个多态性标记进行连锁分析，对这些家系进行基因分型，并构建其单倍型。所有5个DSPP外显子，包括内含子-外显子边界的PCR扩增和测序在这个大家庭的48个成员。所有受影响的个体表现为牙齿变色和严重磨损，髓室消失，没有进行性高频听力损失或骨骼异常。在DSPP的5个多态性标记上没有发现重组。直接DNA测序在所有受影响的个体中发现了一个新的A → G转换突变，该突变邻近内含子3内的供体剪接位点，但未在未受影响的家庭成员和50名无关的蒙古人中发现。本研究发现了一个新的DSPP突变（IVS3 + 3A → G），该突变导致一个蒙古族大家族的DGI-II。这扩大了导致DGI-II的突变谱。
Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in dentin sialophosphoprotein (DSPP). However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China. We identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking DSPP gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family. All affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A→G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals. This study identified a novel mutation (IVS3+3A→G) in DSPP, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.
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一种新型的DSPP突变与中国家族中II型牙毒发生Imperfecta有关。
影响因子：
--
作者：
Zhang, Xianqin;Chen, Lanying;Liu, Jingyu;Zhao, Zhen;Qu, Erjun;Wang, Xiaotao;Chang, Wei;Xu, Chengqi;Wang, Qing K.;Liu, Mugen
通讯作者：
Liu, Mugen
影响因子：
30.8
作者：
Xiao, SX;Yu, C;Kong, XY
通讯作者：
Kong, XY
影响因子：
30.8
作者：
Zhang, XH;Zhao, J;Shen, Y
通讯作者：
Shen, Y
影响因子：
1.9
作者：
MacDougall, M
通讯作者：
MacDougall, M
影响因子：
7.6
作者：
Lee, S. -K.;Lee, K. -E.;Kim, J. -W.
通讯作者：
Kim, J. -W.