Zou Chuan, Gao Qing-Ping, Hussam Haji Bakr, Wang Wei, Bai Xin-Na, He Fang-Qi
Department of Prosthodontics, Xiangya Hospital, Central South University. Changsha 410008; Hunan Province, China.E-mail:
Shanghai Kou Qiang Yi Xue. 2015 Feb;24(1):83-8.
To evaluate the potential mutation in BMP2/BMP4 genes in Chinese patients with non-syndromic hypodontia.
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.
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.
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.
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。
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。
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。
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。
