Mutation analysis of the JUNO gene in female infertility of unknown etiology
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- Takaiso Nobue
- Division of Genetic Counseling, Department of Clinical Laboratory Medicine, Graduate School of Health Sciences, Fujita Health University Department of Breast Oncology Aichi Cancer Center Hospital
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- Nishizawa Haruki
- Department of Obstetrics and Gynecology, Fujita Health University School of Medicine
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- Nishiyama Sachie
- Nishiyama Clinic
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- Sawada Tomio
- Sawada Women's Clinic
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- Hosoba Eriko
- Division of Molecular Genetics, Institute for Comprehensive Medical Sciences, Fujita Health University
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- Ohye Tamae
- Division of Genetic Counseling, Department of Clinical Laboratory Medicine, Graduate School of Health Sciences, Fujita Health University Molecular Laboratory Medicine, Faculty of Medical Technology, School of Health Sciences, Fujita Health University
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- Sato Tsutomu
- Department of Ethics, Fujita Health University School of Medicine
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- Inagaki Hidehito
- Division of Molecular Genetics, Institute for Comprehensive Medical Sciences, Fujita Health University
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- Kurahashi Hiroki
- Division of Molecular Genetics, Institute for Comprehensive Medical Sciences, Fujita Health University
書誌事項
- タイトル別名
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- Mutation analysis of the <i>JUNO</i> gene in female infertility of unknown etiology
この論文をさがす
抄録
<p> The genetic etiology of female infertility is almost completely unknown. Recently, the egg membrane protein JUNO was identified as a receptor of the sperm-specific protein IZUMO1 and their interaction functions in sperm-egg fusion in fertilization. In the present study, we examined 103 women with infertility of unknown etiology. We analyzed the JUNO gene in these cases by PCR and Sanger sequencing. We identified seven variants in total: four common, two synonymous, and a previously unidentified intronic mutation. However, it is not clear from these variants that JUNO has a major role, if any, in infertility. Many factors affect sterility and a larger cohort of patients will need to be screened in the future because the cause of female infertility is highly heterogeneous.</p>
収録刊行物
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- Fujita Medical Journal
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Fujita Medical Journal 2 (3), 59-61, 2016
藤田学園医学会
