家族性复发性葡萄胎研究进展  

Researches on familial recurrent hydatidiform moles:a review

作　　者：雷欣蓉 杨勇莉[1] 陈晓琦 LEI Xinrong;YANG Yongli;CHEN Xiaoqi(Department of Gynecology,Affiliated Hospital of Qinghai University,Xining 810000,Qinghai,China)

机构地区：[1]青海大学附属医院妇科,西宁810000

出　　处：《中国性科学》2021年第8期77-80,共4页Chinese Journal of Human Sexuality

基　　金：青海大学中青年基金项目(2019-QYY-11)。

摘　　要：家族性复发性葡萄胎(FRHMs)的发病机制尚不清楚。可能是母体效应基因NLRP7、KHDC3L、PADI6或一些未被研究发现的基因突变,关闭印记基因的表达,致使母体差异甲基化区域(DMRs)的甲基化缺失,导致FRHMs的发生。FRHMs常有多种形式的妊娠损失,如流产、死产和早期胚胎发育停滞等,使母体难以自然受孕获得生物学意义后代。FRHMs给患者及家庭带来潜在心理创伤,应得到有效的遗传咨询。近年来,卵子捐赠及卵母细胞基因修正技术的兴起,使得FRHMs获得后代成为可能。现将近几年关于FRHMs的相关致病基因研究进展做一综述。The pathogenesis of familial recurrent hydatidiform moles(FRHMs)is unclear.It may be that maternal effect genes NLRP7,KHDC3L,PADI6 or some gene mutations that have not been found turn off the expression of imprinted genes,resulting in the loss of methylation at the maternal differentially methylated regions(DMRs),leading to the FRHMs.FRHMs often result in multiple forms of pregnancy loss,such as miscarriage,stillbirth and early embryonic development stagnation,which make it difficult to naturally conceive and produce biological offspring.FRHMs brings potential psychological trauma to patients and their families,and effective genetic counseling should be provided.In recent years,the rise of egg donation and oocyte gene modification technology has made it possible for FRHMs to obtain offspring.This paper reviews the research progress on the related pathogenic genes of FRHMs.

关 键 词：家族性复发性葡萄胎 母体效应基因 甲基化 突变 遗传咨询 

分 类 号：R714[医药卫生—妇产科学]