TBX1基因影响22q11.2微缺失综合征表型的作用机制研究进展  

Research progress on mechanism of TBX1 gene affecting phenotype of 22q11.2 microdeletion syndrome

作　　者：路玥 刘乐乐(综述) 李亚丽(审校)[1] LU Yue;LIU Le⁃le(reviewing);LI Ya⁃li(checking)(Department of Reproductive Genetics,Hebei General Hospital,Shijiazhuang 050000,Hebei,China;Graduate School,North China University of Science and Technology,Tangshan 063000,Hebei,China)

机构地区：[1]河北省人民医院生殖遗传科,050000 [2]华北理工大学研究生院,唐山063000

出　　处：《医学研究生学报》2020年第6期664-668,共5页Journal of Medical Postgraduates

基　　金：河北省科技计划项目(17277728D)。

摘　　要：22q11.2微缺失综合征是指人类的第22号染色体长臂近端微片段22q11.21⁃q11.23缺失引起的遗传综合征。TBX1属于T⁃box家族,位于染色体的22q11.2,研究表明,TBX1单倍剂量不足是导致22q11.2微缺失综合征的主要原因,它对其表现型的出现具有重要意义。因此,文章就TBX1对心脏病变、肺动脉的表型、胸腺发育、咽腭发育、淋巴管的生成以及甲状旁腺肿瘤低增殖性的作用机制研究进展进行综述。22q11.2 microdeletion syndrome is a genetic syndrome caused by the deletion of 22q11.21⁃q11.23 in the proximal long arm microfragment of chromosome 22 for human.TBX1 belongs to the T⁃box family and is located in 22q11.2 of chromosome.Stud⁃ies have shown that haploinsufficiency of TBX1 is the main cause of 22q11.2 microdeletion syndrome,which is of great significance for the appearance of its phenotype.Therefore,this paper reviews the research progress of TBX1 in the mechanism of cardiac disease,pul⁃monary artery phenotype,thymus development,pharyngeal and palatal development,lymphatic formation,and low proliferation of par⁃athyroid tumors.

关 键 词：22q11微缺失综合征 DIGEORGE综合征 TBX1 表型 腭心面综合征 

分 类 号：R394[医药卫生—医学遗传学]