...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>International Journal of Andrology >Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes.
【24h】

Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes.

机译：鱼精蛋白1和2的基因多态性，单倍型和突变。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Protamines are the most abundant nuclear proteins and alterations in their expression have been described in infertile patients. Also, protamine haplo-insufficient mice have been described as infertile. Therefore, the protamine 1 and 2 genes have been considered important candidates in different mutational studies. In this article, we review all published articles related to protamine gene mutations and report new data on mutations from patients and controls drawn from the Spanish and Swedish populations. Sequencing of the protamine 1 and 2 genes in a total of 209 infertile patients and 152 fertility-proven controls from the Spanish and Swedish populations identified two novel and rare non-pathogenic missense mutations (R17C and R38M) in the protamine 1 gene and several additional polymorphisms. Furthermore, we have identified and we report for the first time five novel rare haplotypes encompassing the protamine 1 and 2 genes. A review of all available protamine gene mutational studies indicates that none of the reported missense mutations can be considered of proven pathogenicity. However, it is interesting to note that rare protamine 1 promoter variants have been reported only in infertile patients, but not in fertile control groups. Pathogenic high penetrance protamine gene missense mutations, if any, must be extremely rare. However, the detected presence of rare variants and haplotypes in infertile patients deserves further investigation.
机译：鱼精蛋白是最丰富的核蛋白，其表达的变化已在不育患者中进行了描述。同样，鱼精蛋白单倍体不足的小鼠也被描述为不育的。因此，在不同的突变研究中，鱼精蛋白1和2基因被认为是重要的候选基因。在本文中，我们回顾了所有与鱼精蛋白基因突变有关的已发表文章，并报告了来自西班牙和瑞典人群的患者和对照组突变的新数据。在西班牙和瑞典人群的总共209名不育患者和152位经生育力验证的对照中对鱼精蛋白1和2基因进行测序，发现鱼精蛋白1基因中有两个新颖且罕见的非致病性错义突变（R17C和R38M），还有几个多态性。此外，我们已经确定并首次报告了涵盖鱼精蛋白1和2基因的5种新颖的罕见单倍型。对所有可用的鱼精蛋白基因突变研究的回顾表明，没有任何报道的错义突变可以被认为具有证实的致病性。但是，有趣的是，仅在不育患者中报告了罕见的鱼精蛋白1启动子变体，而在可育对照组中则没有。致病性高渗透性鱼精蛋白基因错义突变（如果有的话）必须极为罕见。然而，在不育患者中检测到的罕见变体和单倍型的存在值得进一步研究。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号