卵胞浆内精子注射
透明带
生物
不育
胚胎
体外受精
精子
卵母细胞
男科
医学
遗传学
细胞生物学
怀孕
作者
Xiaoli Wei,Youzhu Li,Qicai Liu,Wensheng Liu,Xiaohong Yan,Xingshen Zhu,Dekun Zhou,Tian Ying,Fuxing Zhang,Na Li,Zhongxian Lu
标识
DOI:10.1136/jclinpath-2020-207170
摘要
The zona pellucida (ZP) of human oocytes plays essential protective roles in sperm-egg interactions during fertilisation and embryo development. ZP4-null female rabbits exhibit a thin and irregular ZP, which severely impairs embryo development and fertility. However, the effects of ZP4 defect on human female reproduction remain unknown.We performed whole-exome sequencing in 26 female patients with abnormal (thin and irregular) ZP and identified heterozygous variants in ZP4 (OMIM: 613514) from 3 patients (approximately 11%). No ZP4 variant was found in the 30 control women with proven fertility. We constructed ZP4-mutated plasmids and found that the variants reduced the secretion of ZP4 in vitro. Lower suction pressure facilitated egg retrieval, and intracytoplasmic sperm injection (ICSI) was a desirable treatment for ZP4-mutated patients with abnormal ZP.We identified ZP4 as a novel gene for human abnormal ZP and found that lower suction pressure and ICSI are efficient treatment strategies.
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