40例牙发育不全患者的BMP2/BMP4基因评估
[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].
作者信息
Zou Chuan, Gao Qing-Ping, Hussam Haji Bakr, Wang Wei, Bai Xin-Na, He Fang-Qi
机构信息
Department of Prosthodontics, Xiangya Hospital, Central South University. Changsha 410008; Hunan Province, China.E-mail:
出版信息
Shanghai Kou Qiang Yi Xue. 2015 Feb;24(1):83-8.
PURPOSE
To evaluate the potential mutation in BMP2/BMP4 genes in Chinese patients with non-syndromic hypodontia.
METHODS
Genomic DNA was isolated from blood samples of 40 non-syndromic hypodontia Chinese patients. One hundred unrelated individuals, who were not affected with tooth agenesis (excluding third molars), were used as controls. PCR was performed to amplify each exon of BMP2/BMP4 genes. Gel-purified PCR fragments were sequenced to detect mutations. SPSS13.0 software package was used to analyze the data.
RESULTS
We identified 4 single nucleotide polymorphisms (SNPs) BMP2, c.109T>G p.Ser37Ala; c.261A> G p.Ser87Ser; c.570A>T p.Arg190Ser; BMP4 c.455T> C p.Val152Ala; and a novel mutation BMP2 c.166C> G p.Arg56Gly within the family.
CONCLUSIONS
Our finding suggests that all the identified SNPs and the new mutation of BMP2 may be responsible for tooth agenesis in the participants, but the possible association requires further research.
目的
评估中国非综合征性牙发育不全患者BMP2/BMP4基因的潜在突变。
方法
从40例中国非综合征性牙发育不全患者的血液样本中分离基因组DNA。选取100名未患牙缺失（不包括第三磨牙）的无关个体作为对照。进行PCR扩增BMP2/BMP4基因的每个外显子。对凝胶纯化的PCR片段进行测序以检测突变。使用SPSS13.0软件包分析数据。
结果
我们在该家族中鉴定出4个单核苷酸多态性（SNP）：BMP2基因的c.109T>G p.Ser37Ala；c.261A>G p.Ser87Ser；c.570A>T p.Arg190Ser；BMP4基因的c.455T>C p.Val152Ala；以及一个新的突变BMP2基因的c.166C>G p.Arg56Gly。
结论
我们的研究结果表明，所有鉴定出的SNP以及BMP2基因的新突变可能与参与者的牙缺失有关，但这种可能的关联需要进一步研究。
Zotero 插件