TP63基因突变与早发性卵巢功能不全的相关性研究

Study on the correlation between TP63 gene mutation of women and their premature ovarian insufficiency

早发性卵巢功能不全是导致女性不孕的重要原因,而目前的研究尚无法明确阐明该疾病的发病病因,近年来随着全外显子组测序技术及全基因组测序技术的发展,不断深入地探究了该疾病的遗传学病因,发现基因突变在该病进展中起到重要的作用。研究发现TP63基因参与卵泡发育成熟的各个时期,TP63基因突变诱导卵泡凋亡,导致卵泡数量的过度耗竭,影响卵巢的生殖功能。因此本文阐述TP63基因突变在早发性卵巢功能不全进展中对卵泡发育成熟的影响,以期为该病的诊断和治疗提供新思路。

Premature ovarian insufficiency(POI)is one of the most important cause of the female infertility.However,the etiology of POI was still not clearly elucidated.In recent years,with the development of sequencing technologies,such as the whole-exome sequencing and whole-genome sequencing,the genetic etiology of POI has been continuously explored,and then the gene mutations of the women were found to play a more important role in the progression of POI.The studies have found that the TP63gene is involved in the various stages of the follicle development and maturation.The mutation of TP63gene of the women induces their follicle apoptosis,leads to the excessive depletion of their follicle numbers and affects their ovarian reproductive function.Therefore,this article describes the influence of the TP63gene mutation of the women with POI on their follicular development and maturation in the progression,in order to provide the new ideas for the diagnosis and treatment of POI.