22号染色体长臂近端微片段缺失综合征的遗传学研究  

Progresses on the genetic study of 22q11 deletion syndrome

作　　者：方绍伟[1] 郑谦[1] 

机构地区：[1]四川大学华西口腔医院唇腭裂外科,四川成都610041

出　　处：《国际口腔医学杂志》2009年第1期91-93,共3页International Journal of Stomatology

摘　　要：22号染色体长臂近端微片段缺失综合征是一类以22q11.2的基因缺失为主要特征的遗传性疾病,涉及全身多个器官的异常,但在基因层次上有相同的遗传学基础,表型不同。对其基因学的研究主要集中于极限迪格奥尔临界区域中基因位点的分析,包括tbx-1、hira、UFD1L和pcqap等基因。下文主要就22q11近端微片段缺失综合征的临床和基因学表现以及研究方法等研究状况作一综述,为其深入研究提供参考。22q11 deletion syndrome is a genetic disease which expresses the micro deletion of the 22q11.2. Its appearance involves multitude organics and contains many syndromes which have different phenotype on the genetics, as the research going on, the main research point is the minimal DiGeorge critical region, which is consist of tbx-1, hira, UFD1L, pcqap and so on. The research method is maturing, which includes five ways. This review tries to introduction of the research progresses of the currant study and provides the reference for other researchers.

关 键 词：22号染色体 缺失综合征 腭心面综合征 

分 类 号：R394[医药卫生—医学遗传学]