不孕症的遗传学病因研究综述

A review of the genetic causes of infertility

不孕症是影响生殖健康的重要原因。不孕不育的发生受许多因素影响,遗传因素对于明确不孕症的诊断及再生育计划制定非常有意义。本文从遗传因素出发,对于女性不孕症中性腺发育不全、卵巢功能不全、卵母细胞成熟障碍、受精失败、卵裂失败及早期胚胎发育阻滞、空卵泡综合征等,男性不育症中精子发生、少弱畸形精子症、性腺发育等疾病进行了最新研究进展的总结,主要包括染色体异常、拷贝数变异以及单个基因的缺陷等变异类型的遗传病因。

Infertility hinders reproductive health to a great extent.The occurrence of infertility is affected by many factors,and genetic factors are a key to the diagnosis of infertility and formulation of reproductive plans.This article started from the genetic factors concerning female infertility gonad hypogenesis,ovarian insufficiency,oocyte maturation disorder,fertilization failure,cleavage failure and early embryo development block,empty follicle syndrome,etc.,and male infertility diseases such as spermatogenesis,oligoasthenozoospermia,and gonadal development,and then summarized the research progress in chromosomal abnormalities,copy number variations and defects of individual genes.