FOXl2基因的研究现状  

Study of FOXL2 Gene

作　　者：雷涛(综述)[1] 廖世波(综述)[1] 段迎春(综述)[2] 杜兴贵(审阅)[3] 

机构地区：[1]湖北医药学院第三临床学院,湖北省十堰市442000 [2]湖北医药学院附属十堰市人民医院妇产科,湖北省十堰市442000 [3]湖北医药学院病理学教研室,湖北省十堰市442000

出　　处：《医学分子生物学杂志》2011年第4期368-371,共4页Journal of Medical Molecular Biology

摘　　要：FOXL2基因为一单外显子基因，定位于染色体的3q23区域，编码一个分叉头的转录因子。FOXL2基因的正常表达是维持女性性别特征的极其重要的基本条件。该基因若发生突变可导致女性性别特征呈现异常。同时证实其是睑裂狭小、逆向内眦赘皮和上睑下垂综合征（blepharophimosis—ptosis—epicanthus inversus syndrome，BPES）的致病基因。此外，FOXL2基因发生突变与卵巢早衰（premature ovarian failure，POF）有关，并认为FOXL2是卵巢分化早期的调控因子。另有资料提示FOXL2基因突变与生殖系统肿瘤有相关性。FOXL2 is a single-exon gene encoding a forkhead transcription factor, which is located at 3q23. Normal expression of FOXL2 is important to maintain female gender characteristics. Mutations in FOXL2, however, are likely to result in abnormity of female characteris- tics. FOX12 mutation causes BPES. Its mutations can be detected in POF patients. FOX13 is considered as an early regulator of ovarian development. In addition, it has been suggested that mutations in FOXL2 are relative to reproductive system tumors.

关 键 词：FOXL2基因 先天性睑裂狭小综合征 基因突变 卵巢早衰 

分 类 号：R349.6[医药卫生—基础医学]