美女131黄的全免费

医院美女131黄的全免费> 新闻美女131黄的全免费 > 医院新闻 > 【重大成果】中信湘雅发现导致女性早发性卵巢功能不全的新基因

【重大成果】中信湘雅发现导致女性早发性卵巢功能不全的新基因

本站 178 2020/05/21 11:10:44

近日,中信湘雅生殖与遗传专科医院在人类配子发生研究领域再次取得原创性研究成果,发现SYCP2L是导致女性早发性卵巢功能不全(POI)的新基因,相关成果“Homozygous variants in SYCP2L cause premature ovarian insufficiency”(PMID: 32303603)发表在国际知名遗传学杂志《Journal of Medical Genetics》(全文链接:http://jmg.bmj.com/content/early/2020/04/17/jmedgenet-2019-106789)。


早发性卵巢功能不全

是导致女性不孕的重要原因

不孕不育是严重威胁人类生殖健康的全球性疾病,约20%的育龄夫妻受其困扰,其中一半是由于女性不孕所导致。早发性卵巢功能不全(POI;既往称为卵巢早衰,POF)是导致女性不孕的重要原因,发生率约为1%美女131黄的全免费,指女性在40岁之前卵巢功能衰竭,表现为闭经或者稀发月经伴随血促性腺激素水平升高。POI严重影响女性生殖健康。

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全外显子测序检测找到变异真凶

benyanjiutongguodui110gezaofaxingluanchaogongnengbuquanjiaxijinxingquanwaixianzicexujiance,zai2gepoihuanzhezhongfaxian2gesycp2ljiyindebianyi(c.150_151del; c.999a>g),tongguoxibaoshuipingdegongnengyanjiu,zhengshilegai2bianyidezhibingxing,bingzuizhongjiandingsycp2lshipoidexinzhibingjiyin。sycp2lshizhesilidanbai,zailuanmuxibaojianshufenlieqianqigaobiaoda,kenengcanyujianshufenlielianhuifuhetidexingcheng。gaidanbaideyichanghuiyinqiluanzifashengshouzu,daozhipoidefashengjinvxingbuyun。

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