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

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。

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.