Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region  

作　　者：Chen-Yao Deng Zhe Zhang Wen-Hao Tang Hui Jiang 

机构地区：[1]Department of Urology,Third Hospital of Peking University,Beijing 100089,China [2]Department of Andrology,Third Hospital of Peking University,Beijing 100089,China [3]Department of Human Sperm Bank,Third Hospital of Peking University,Beijing 100089,China

出　　处：《Asian Journal of Andrology》2023年第1期5-12,共8页亚洲男性学杂志（英文版）

基　　金：supported by National Natural Science Foundation of China (No.81901535 and No.82071698);the National Key Research&Developmental Program of China (No.2021YFC2700203);Natural Science Foundation of Beijing Municipality (No.7222208).

摘　　要：Spermatogenesis is regulated by several Y chromosome-specific genes located in a specific region of the long arm of the Y chromosome,the azoospermia factor region(AZF).AZF microdeletions are the main structural chromosomal abnormalities that cause male infertility.Assisted reproductive technology(ART)has been used to overcome natural fertilization barriers,allowing infertile couples to have children.However,these techniques increase the risk of vertical transmission of genetic defects.Despite widespread awareness of AZF microdeletions,the occurrence of de novo deletions and overexpression,as well as the expansion of AZF microdeletion vertical transmission,remains unknown.This review summarizes the mechanism of AZF microdeletion and the function of the candidate genes in the AZF region and their corresponding clinical phenotypes.Moreover,vertical transmission cases of AZF microdeletions,the impact of vertical inheritance on male fertility,and the prospective direction of research in this field are also outlined.

关 键 词：azoospermia factor male infertility MICRODELETION vertical transmission 

分 类 号：R697[医药卫生—泌尿科学]