Mutation analysis of the JUNO gene in female infertility of unknown etiology
Mutation analysis of the JUNO gene in female infertility of unknown etiology
复制标题
女性不明原因不孕症JUNO基因突变分析
DOI：
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发表时间：
2016
期刊：
影响因子：
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通讯作者：
H. Kurahashi
中科院分区：
文献类型：
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作者：
Nobue Takaiso;H. Nishizawa;S. Nishiyama;T. Sawada;Eriko Hosoba;T. Ohye;Tsutomu Sato;H. Inagaki;H. Kurahashi
女性不孕症的遗传病因几乎完全未知。最近，卵膜蛋白JUNO被鉴定为精子特异性蛋白IZUMO 1的受体，并在受精过程中精卵融合中发挥相互作用。在本研究中，我们检查了103名不明原因的不孕症妇女。我们通过PCR和桑格测序分析了这些病例中的JUNO基因。我们总共鉴定了七种变异：四种常见的，两种同义的，和一种以前未鉴定的内含子突变。然而，从这些变异中尚不清楚JUNO是否在不孕症中起主要作用。许多因素会影响不孕症，将来需要筛查更多的患者，因为女性不孕症的原因是高度异质性的。
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.
DOI：
10.1056/nejmoa1308851
发表时间：
2014-03-27
期刊：
The New England journal of medicine
影响因子：
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作者：
Huang HL;Lv C;Zhao YC;Li W;He XM;Li P;Sha AG;Tian X;Papasian CJ;Deng HW;Lu GX;Xiao HM
通讯作者：
Xiao HM