《Journal of Oral and Maxillofacial Surgery》 ›› 2013, Vol. 23 ›› Issue (4): 244-247. doi: 10.3969/j.issn.1005-4979.2013.04.002

• Basic Scientific Study • Previous Articles     Next Articles

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   

  1. 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

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   

  1. 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
  • 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)

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

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

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