单纯性先天缺牙患者BMP2/BMP4基因位点分析

上海口腔医学 ›› 2015, Vol. 24 ›› Issue (1): 83-88.

单纯性先天缺牙患者BMP2/BMP4基因位点分析

邹川¹,高清平¹,王巍^1,2,白新娜^1,2,何芳奇^1,2

1.中南大学湘雅医院口腔医学中心修复科,湖南长沙 410008;
2.中南大学口腔医学院,湖南长沙 410008

收稿日期:2014-03-21 出版日期:2015-02-20 发布日期:2015-07-24
通讯作者: 高清平,E-mail:dentgao@163.com
作者简介:邹川（1987-）,女,在读硕士研究生,E-mail:121403890@qq.com
基金资助:
湖南省科学技术厅科技计划项目（2012FJ4088）

BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis

ZOU Chuan¹,GAO Qing-ping¹,Hussam Haji Bakr^1,2,WANG Wei^1,2,BAI Xin-na^1,2,HE Fang-qi^1,2

1.Department of Prosthodontics, Xiangya Hospital, Central South University. Changsha 410008;
2.School of Stomatology, Central South University. Changsha 410008, Hunan Province, China

Received:2014-03-21 Online:2015-02-20 Published:2015-07-24
Supported by:
Research Project of Hunan Provincial Science and Technology Department (2012FJ4088)

摘要/Abstract

摘要： 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dbSNP 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,dbSNP 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dbSNP 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。

关键词: 先天缺牙, BMP2, BMP4, 基因突变

Abstract: 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.

Key words: Tooth agenesis, BMP2, BMP4, Gene mutation

中图分类号:

R783

邹川,高清平,王巍,白新娜,何芳奇. 单纯性先天缺牙患者BMP2/BMP4基因位点分析[J]. 上海口腔医学, 2015, 24(1): 83-88.

ZOU Chuan,GAO Qing-ping,Hussam Haji Bakr,WANG Wei,BAI Xin-na,HE Fang-qi. BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis[J]. Shanghai Journal of Stomatology, 2015, 24(1): 83-88.

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