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

CLC Number: 

• R782.2

• Q754