FOXL2基因突变研究进展  

Advances in the Study of FOXL2 Gene

作　　者：张颖莹[1] 史惠蓉[1] 孔祥东[1] 

机构地区：[1]郑州大学第一附属医院妇产科,450052

出　　处：《国际遗传学杂志》2006年第5期360-363,共4页International Journal of Genetics

基　　金：郑州市科技计划项目(NO.04BA60ABYC01)

摘　　要：FOXL2基因是一种单一外显子基因,定位于3q23区域。研究表明其是睑裂狭小、倒转型内眦赘皮和上睑下垂综合征(blepharophimosis-ptosis-epicanthus inversus syndrome,BPES)的致病基因,在BPESⅠ型和Ⅱ型患者中均存在FOXL2基因突变。此外,FOXL2基因还是第一个被证实与卵巢维持和卵巢早衰(premature ovarian failure,POF)有关的人类常染色体上携带的基因。在相当一部分的卵巢早衰患者中可检测到FOXL2基因突变,它可能是卵巢发育中的一种早期调控因子。Mutaions in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome （BPES）types Ⅰ and Ⅱ, which are rare autosomal disorders. In addition,a few FOXL2 mutations have been reported in isolated POF patients. In adequate part of patients with ovary maintian and premature ovarian failure, the mutation of FOXL2 gene could be detected and maybe it is an early regulator of ovarian development.

关 键 词：FOXL2基因突变 BPES综合征 

分 类 号：R346[医药卫生—基础医学]