TBX22基因变异与国人部分人群唇腭裂发病的关系

doi:10.3969/j.issn.1005-4979.2013.04.002

《口腔颌面外科杂志》 ›› 2013, Vol. 23 ›› Issue (4): 244-247. doi: 10.3969/j.issn.1005-4979.2013.04.002

TBX22基因变异与国人部分人群唇腭裂发病的关系

徐晨，乌丹旦，王国民，梁赟，杨育生

上海交通大学医学院附属第九人民医院·口腔医学院口腔颌面外科，唇腭裂治疗中心，
上海市口腔医学重点实验室，上海 200011

出版日期:2013-08-28 发布日期:2013-11-07
通讯作者: 杨育生，副教授. E-mail:yysdj4829@yahoo.com.cn
作者简介:徐晨（1987?鄄），女,山东淄博人，硕士研究生 . E-mail: xuchen19870123@126.com
基金资助:
国家自然科学基金资助项目（81070813）；上海交通大学医学院附属第九人民医院院基金项目（201212）

TBX22 Mutation Associated with Non-syndromic Cleft Lip and/or
Cleft Palate in the Chinese Population

XU Chen, WU Dan-dan, WANG Guo-min, LIANG Yun, YANG Yu-sheng

Center for Cleft Lip and Palate, Department of Oral and Cranio-maxillofacial Sciences, the 9th People's Hospital, College of Stomatology, School of Medicine, Shanghai Jiaotong University, Shanghai Key Laboratory of Stomatology, Shanghai 200011, China

Online:2013-08-28 Published:2013-11-07

摘要/Abstract

摘要： 目的：在中国唇腭裂患者中，对TBX22基因进行检测,研究TBX22基因变异或者多态性与部分中国人群唇腭裂的关系。方法：采用基因测序的方法，在100例唇腭裂患者中进行TBX22基因测序，对得到的变异位点，在正常人中进行验证，并对结果进行生物信息学分析。结果：共发现5个TBX22基因变异位点：876G>A(D292N),72C>T(L24L)和其他3个内含子区域的单核苷酸多态性位点。结论：首次在中国人群唇腭裂患者中进行TBX22基因全部外显子区域及附近序列的测序，得出了中国唇腭裂患者 TBX22基因的变异情况。

关键词: 唇腭裂, 单纯腭裂, TBX22, 变异, 中国人

Abstract: Objective: This study purposed to investigate TBX22 gene population profile in Chinese patients and families with cleft lip and/or cleft palate (CL/P)，and examine whether mutations or genetic polymorphisms in TBX22 are related to the formation of cleft lip and/or palate. Methods: 100 CPI(cleft palate isolated) and 51 CL/P patients were enrolled in the study. TBX22 mutations were revealed by sequencing in patients with different cleft types, and analyzed by using statistical and bioinformatical methods. Results: Five TBX22 variants were found including a hemizygous missense mutation 874G>A (D292N) in a family with cleft lip, one synonymous variant and three single nucleotide alterations in introns. The first is potential pathogenic. Conclusion: The study provided a population profile in Chinese CPI and CL/P patients, and confirmed the important role of TBX22 in patients with cleft lip accompanied with/without cleft palate.

Key words: cleft lip with/without cleft palate, cleft palate isolated, TBX22, variants； Chinese

中图分类号:

R782.2
Q754

徐晨，乌丹旦，王国民，梁赟，杨育生. TBX22基因变异与国人部分人群唇腭裂发病的关系[J]. 《口腔颌面外科杂志》, 2013, 23(4): 244-247.

XU Chen, WU Dan-dan, WANG Guo-min, LIANG Yun, YANG Yu-sheng. TBX22 Mutation Associated with Non-syndromic Cleft Lip and/or
Cleft Palate in the Chinese Population[J]. 《Journal of Oral and Maxillofacial Surgery》, 2013, 23(4): 244-247.

https://journal06.magtech.org.cn/Jweb_joms/CN/Y2013/V23/I4/244

参考文献

[1] Murray JC. Gene/environment causes of cleft lip and/or palate[J]. Clin Genet, 2002, 61(4):248-256.

[2] Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts[J]. Hum Mol Genet, 2004, 13(1):R73-R81.

[3] Blanton SH, Cortez A, Stal S, et al. Variation in IRF6 contributes to nonsyndromic cleft lip and palate[J]. Am J Med Genet A, 2005, 137A(3):259-262.

[4] Braybrook C, Lisgo S, Doudney K, et al. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients[J]. Hum Mol Genet, 2002, 11(22):2793-2804.

[5] Haenig B, Schmidt C, Kraus F, et al. Cloning and expression analysis of the chick ortholog of TBX22, the gene mutated in X-linked cleft palate and ankyloglossia[J].Mech Dev ,2002, 117(1-2):321-325.

[6] Pauws E, Hoshino A, Bentley L, et al. Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes[J]. Hum Mol Genet, 2009, 18(21): 4171-4179.

[7] Fuchs A, Inthal A, Herrmann D, et al. Regulation of Tbx22 during facial and palatal development[J]. Dev Dyn, 2010, 239(11):2860-2874.

[8] Lowry RB. Sex-linked cleft palate in a British Columbia Indian family[J].Pediatrics, 1970 ,46(1):123-128.

[9] Bjornsson A, Arnason A, Tippet P. X-linked cleft palate and ankyloglossia in an Icelandic family[J]. Cleft Palate J, 1989, 26(1):3-8.

[10] Gorski SM, Adams KJ, Birch PH, et al. The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1[J]. Am J Hum Genet, 1992, 50(5):1129-1136.

[11] Braybrook C, Doudney K, Marcano AC, et al. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia[J]. Nat Genet, 2001, 29(2):179-183.

[12] Marcano AC, Doudney K, Braybrook C, et al. TBX22 mutations are a frequent cause of cleft palate[J]. J Med Genet, 2004, 41(1):68-74.

[13] Suphapeetiporn K, Tongkobpetch S, Siriwan P, et al. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population[J]. Clin Genet, 2007, 72(5):478-483.

[14] Kaewkhampa A, Jotikasthira D, Malaivijitnond S, et al. TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly[J]. Cleft Palate Craniofac J, 2012, 49(2):240-244.

[15] Kantaputra PN, Paramee M, Kaewkhampa A, et al. Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations[J]. J Dent Res, 2011, 90(4):450-455.

选择文件类型/文献管理软件名称

选择包含的内容

TBX22基因变异与国人部分人群唇腭裂发病的关系

TBX22 Mutation Associated with Non-syndromic Cleft Lip and/or
Cleft Palate in the Chinese Population

PDF

可视化

被引次数

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 13

编辑推荐

Metrics

本文评价

[1]	回翔, 姜宇欣, 刘婷婷, 时旭恒, 王琪, 宋涛. TPM1基因相关多态性与中国北方汉族人群非综合征性唇腭裂的相关研究[J]. 《口腔颌面外科杂志》, 2022, 32(1): 34-41.
[2]	王映1，王浩然1，陈彬2，李志萍1,2，孟箭1,2. 个性化正畸正颌联合治疗唇腭裂继发严重错牙合畸形1例[J]. 《口腔颌面外科杂志》, 2021, 31(4): 256-.
[3]	高先连, 李丽. 箱庭疗法对学龄期唇腭裂手术患儿个性行为发展的影响[J]. 《口腔颌面外科杂志》, 2019, 29(2): 101-104.
[4]	刘庆成, 王敏娇, 司家文, 王旭东, 于洪波. 前段截骨牵引治疗唇腭裂继发上颌骨发育不足[J]. 《口腔颌面外科杂志》, 2017, 27(3): 179-184.
[5]	杨晓莉，邹德荣. 下颌双神经管的研究进展[J]. 《口腔颌面外科杂志》, 2015, 25(5): 374-.
[6]	孙凤霞，申铁兵. 非综合征性唇腭裂665例回顾性分析[J]. 《口腔颌面外科杂志》, 2015, 25(2): 137-.
[7]	杨晓莉，刑一栋，吕成奇，邹德荣. 双下颌管的CBCT观察[J]. 《口腔颌面外科杂志》, 2015, 25(2): 108-.
[8]	冯晓东，张春蕾，蒋子超. 正畸正颌联合治疗唇腭裂术后牙颌面畸形的疗效观察[J]. 《口腔颌面外科杂志》, 2014, 24(6): 429-.
[9]	吴忆来，杨育生，陈阳，万腾，王国民. 牙槽突裂的牙颌特性和修复计划制定[J]. 《口腔颌面外科杂志》, 2014, 24(2): 119-122.
[10]	原光辉，南欣荣. MTR基因rs1805087位点多态性与非综合征性唇腭裂的关联性研究[J]. 《口腔颌面外科杂志》, 2013, 23(4): 248-252.
[11]	乌丹旦，王国民，徐晨，马端，王慧君，郑枫芸. 22q11.2区DNA拷贝数变异与腭心面综合征临床表型关系的研究[J]. 《口腔颌面外科杂志》, 2012, 22(6): 386-389.
[12]	任一雄，南欣荣. 山西人群MTHFR基因rs1801133位点多态性与非综合征性唇腭裂的关联性研究[J]. 《口腔颌面外科杂志》, 2012, 22(3): 179-182.
[13]	徐晨，吕燕，杨育生. 非综合征型唇腭裂易感基因的研究进展[J]. 《口腔颌面外科杂志》, 2012, 22(1): 68-72.

模态框（Modal）标题

选择文件类型/文献管理软件名称

选择包含的内容

TBX22基因变异与国人部分人群唇腭裂发病的关系

TBX22 Mutation Associated with Non-syndromic Cleft Lip and/or Cleft Palate in the Chinese Population

PDF

可视化

被引次数

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 13

编辑推荐

Metrics

本文评价

TBX22 Mutation Associated with Non-syndromic Cleft Lip and/or
Cleft Palate in the Chinese Population