| Van der Woude综合征家系先天缺牙患者MSX1基因突变的检测 |
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| 作者姓名： | 杜新雅 李晓宇 谢春 武斌 宋光保 杜野 |
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| 作者单位： | 深圳市龙华区人民医院口腔科;南方医科大学口腔医院特诊中心 |
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| 基金项目： | 广东省自然科学基项目(2019A515011714);深圳市科技计划项目(JCYJ20180228164057158) |
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| 摘 要： | 目的探讨MSX1基因与Van der Woude综合征(VWS)家系中缺牙的关系。方法从VWS家系9中伴发缺牙患者2人及家系正常成员2人、60个牙列完整的健康者共64人的静脉血中提取DNA,设计MSX1基因引物,采用PCR方法扩增MSX1基因外显子1、2的编码区,而后对外显子1、2的PCR纯化产物测序,进行序列比对分析。结果 VWS家系9两个缺牙患者MSX1基因中有ivs2+68 C>T多态;伴IRF6基因突变的VWS患者缺牙较多。结论 VWS家系9中先天缺牙患者的牙先天缺失与MSX1基因的ivs2+68 C>T多态可能相关。
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| 关 键 词： | Van der Woude综合征 先天缺牙 下唇瘘 唇裂 腭裂 MSX1 致病基因 基因多态性 基因突变 |
Detection of MSX1 gene mutations in patients with congenital tooth loss in Van der Woude syndrome |
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| Authors: | DU Xinya LI Xiaoyu XIE Chun WU Bin SONG Guangbao DU Ye |
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| Institution: | (Department of Stomatology,the People′s Hos?pital of Longhua,Shenzhen 518000,China;Department for VIP,Stomatological Hospital,Southern Medical Univer?sity,Guangzhou 510280,China) |
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| Abstract: | ObjectiveTo explore the relationship between MSX1 gene detection and tooth loss in a Van derWoude syndrome(VWS) family.MethodsDNA was extracted from the venous blood of 2 patients with dental hy-podontia in the 9 th family of Van der Woude syndrome(VWS) families and 62 controls with complete dentition.Primerswere designed for the MSXl gene.The coding regions of exons 1 and 2 of the MSX1 gene were amplified by PCR.Thepurified products of exons 1 and 2 of the MSX1 gene were sequenced and analyzed by sequence alignment.Results The ivs2+68 C>T polymorphism in the MSX1 gene was found in the VWS9 members with tooth loss,and the VWS pa-tients with IRF6 gene mutations had increased tooth loss.ConclusionCongenital tooth loss in the patients with con-genital missing teeth in VWS family 9 may be related to the ivs2 + 68 C> T polymorphism of the MSX1 gene. |
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| Keywords: | Van der Woude syndrome congenital missing teeth lower lip fistula cleft lip cleft palate MSX1 pathogenic gene gene polymorphism genetic mutations |
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