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目的:对BMP2/BMP4基因在单纯性先天缺牙患者中的基因表达进行观察,探讨其在先天缺牙疾病中可能的发病机制。方法:提取单纯性先天缺牙患者40例及其家系成员外周静脉血基因组DNA,另选择100例非先天缺牙患者作为对照,应用聚合酶链式反应(PCR)扩增BMP2/BMP4基因编码外显子,纯化、测序,应用DNASTAR软件对测序结果进行对比分析。采用SPSS13.0软件包对数据进行统计学处理。结果:40例先天缺牙患者中,共检测到BMP2/BMP4基因5个突变位点,其中BMP2基因4个突变点:3个错义突变c.109T>G,c.166C>G,c.570A>T,检出率分别为7.5%、2.5%和95%;1个同义突变(c.261A>G),检出率为100%。3个为db SNP数据库中已报道过的多态位点:BMP2SNPs c.109T>G p.Ser37Ala;c.261A>G p.Ser87Ser;c.570A>T p.Arg190Ser;家系先证者BMP2 c.166C>G突变在正常对照组未检出,db SNP数据库未报道,也未被收录于致病基因数据库,为新突变位点。BMP4基因检测出错义突变c.455T>C,检出率为55%,为db SNP数据库中已报道过的多态位点。与对照组等位基因及基因型比较,无显著差异。结论:单纯性先天缺牙可能与BMP2/BMP4基因检出SNPs相关。BMP2c.166C>G杂合突变是新发现的突变,可能是单纯性先天缺牙家系的致病突变。
OBJECTIVE: To observe the gene expression of BMP2 / BMP4 gene in simple congenital edentulous patients and to explore its possible pathogenesis in congenital tooth defects. Methods: Genomic DNA from peripheral venous blood was collected from 40 patients with simple congenital enephrodisia and from their family members. Another 100 patients with non-congenital edentulous teeth were selected as controls. The gene encoding BMP2 / BMP4 was amplified by polymerase chain reaction (PCR) Exon, purification, sequencing, the application of DNASTAR software sequencing results were compared. SPSS13.0 software package for statistical analysis of the data. Results: Four mutations of BMP2 / BMP4 gene were detected in 40 patients with congenital edentulous teeth. There were 4 mutations in BMP2 gene: 3 missense mutations c.109T> G, c.166C> G, c. 570A> T, the detection rates were 7.5%, 2.5% and 95%, respectively. One synonymous mutation (c.261A> G) was detected with a detection rate of 100%. Three were reported as polymorphic sites in the db SNP database: BMP2 SNPs c.109T> G p.Ser37Ala; c.261A> G p.Ser87Ser; c.570A> T p.Arg190Ser; .166C> G mutation was not detected in the normal control group, db SNP database was not reported, nor included in the database of pathogenic genes, as a new mutation site. BMP4 gene detection missense mutation c.455T> C, the detection rate was 55%, db SNP database has been reported in the polymorphic sites. Compared with the control group alleles and genotypes, no significant difference. Conclusion: Simple congenital missing teeth may be associated with SNPs detected by BMP2 / BMP4 gene. BMP2c.166C> G heterozygous mutation is a newly discovered mutation, which may be a pathogenic mutation in simple congenital toothless tooth family.