Novel zona pellucida gene variants identified in patients with oocyte anomalies

ZP-gene variants in total were identified in nearly 9% of patients with oocyte morphologic anomalies.

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Volume 107, Issue 6, Pages 1364–1369

Authors:

Ping Yang, M.D., Xin Luan, M.D., Yingqian Peng, M.D., Tailai Chen, M.D., Ph.D., Shizhen Su, M.S., Changming Zhang, B.S., Zhao Wang, B.S., Lei Cheng, B.S., Xin Zhang, B.S., Ying Wang, B.S., Zi-Jiang Chen, M.D., Ph.D., Han Zhao, M.D., Ph.D.

Abstract:

Objective

To detect ZP (zona pellucida) gene (ZP1ZP4) mutations in patients with oocyte anomalies.

Design

Case-control genetic study.

Setting

University-based reproductive medicine center.

Patient(s)

A total of 92 infertile patients with repeated cycles of oocyte maturation arrest (group I, n = 49) or oocyte morphologic defect (group II, n = 43) as well as 373 healthy controls.

Intervention(s)

Genomic DNA extracted from peripheral blood and coding regions of ZP genes amplified by polymerase chain reaction and sequenced by a DNA analyzer.

Main Outcome Measure(s)

Variant prediction of ZP genes with software.

Result(s)

In group I with oocyte maturation arrest, no novel variants were found. In group II with oocyte morphologic defects, four novel variants, two in the ZP1 gene [c.247T>C (p.W83R) and c.1413G>A (p.W471X)] and two in the ZP2 gene [c.1599G>T (p.R533S) and c.1696T>C (p.C566R)] were detected in 4 of 43 patients (approximately 9%) but were absent from the controls. Protein alignments showed that the four variants were highly conserved among different species, and all four variants were predicted to be deleterious by gene software predictions.

Conclusion(s)

ZP gene variants may account for patients with oocyte morphologic abnormalities but not for those with oocyte maturation arrest.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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Go to the profile of Han Zhao
Han Zhao over 3 years ago

Zp genes vararions are important for patients with oocytes defects