期刊
JOURNAL OF CLINICAL PATHOLOGY
卷 75, 期 3, 页码 201-204出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jclinpath-2020-207170
关键词
ovary; pathology; molecular; cell biology; DNA
类别
资金
- Natural Science Foundation of Fujian Province of China [2019J01565]
- Medical and Health Guidance Project of Xiamen [3502Z20209267]
- National Key R&D Program of China [SQ2017YFSF080005-02]
The study identified ZP4 as a novel gene associated with abnormal ZP in humans, and found that lower suction pressure and ICSI are effective treatment strategies for ZP4-mutated patients with abnormal ZP.
Background 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. Methods and results 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. Conclusions 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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