摘要
PAX2(配对盒基因2)是一个核转录因子基因,在物种间高度保守,主要表达于10号染色体长臂24-25区,长约70 kb,其中包含12个外显子。PAX2基因在肾脏发育过程中是不可或缺的,主要在发育的前肾、中肾和后肾的小管及间充质成分中起作用,该基因的突变或缺失可导致胎儿不同的肾脏发育异常表型。本文主要从肾脏发育过程、PAX2基因在肾脏发育中的作用及PAX2表达异常所导致的临床表型进行阐述。
PAX2(paired box gene 2)is a nuclear transcription factor gene that is highly conserved between species and is mainly expressed in region 24-25 of the long arm of chromosome 10,which is about 70 kb in length and contains 12exons.The PAX2 gene is indispensable in renal development and mainly plays a role in tubules and mesenchymal components of the developing forekidney,meskidney and metankidney.Mutations or deletions of this gene can lead to different developmental abnormal phenotypes in the fetus.In this paper,renal development,the role of PAX2 gene in renal development and the clinical phenotypes caused by abnormal PAX2 expression were discussed.
作者
张玉
李肖华
武海英
葛淑娴
李少琼
高健
ZHANG Yu;LI Xiaohua;WU Haiying;GE Shuxian;LI Shaoqiong;GAO Jian(Reproductive Genetics Department,Hebei General Hospital,Shijiazhuang,Hebei,050057,China)
出处
《中国优生与遗传杂志》
2023年第1期203-207,共5页
Chinese Journal of Birth Health & Heredity
基金
河北省政府资助专科带头人培养项目(2018674)。
