在IVF/ICSI失败的不孕妇女中识别PATL2中的新突变和表型谱扩展

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Updated: Jun 29, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Zhiqi Ye¹, Da Li², Xiangli Niu³

¹Institute of Pediatrics, Children's Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.

Journal of assisted reproduction and genetics

|March 27, 2024

概括

PATL2基因的双基缺陷是女性不孕症的重要原因,影响卵细胞成熟和胚胎发育. 这项研究在不育患者中发现了15种新的PATL2变异,扩大了基因咨询的知识.

科学领域:

遗传学是一个遗传学.
生殖生物学生殖生物学
分子医学是分子医学.

背景情况:

女性不孕症通常与IVF/ICSI期间卵细胞成熟,受精和早期胚胎发育的问题有关.
虽然遗传因素是相关的,但许多仍然未被发现.
在PATL2基因的双基缺陷是已知的女性不孕症的贡献者.

研究的目的:

调查PATL2变异在女性不孕症中的作用.
为了确定与IVF/ICSI失败相关的PATL2中的新型致病变体.
了解PATL2缺乏对生殖结果的患病率和影响.

主要方法:

在935名患有IVF/ICSI失败史的不育患者中进行了全外组测序.
对遗传变异进行了分析,以寻找衰退性遗传模式.
使用in silico分析和3D分子建模来评估已识别的变异的功能影响.

主要成果:

确定了18个具有衰退PATL2变异的试验对象,占研究队列的1.93%.
发现了15种新的PATL2变体,预测保存的氨基酸变化.
在和建模研究表明,PATL2突变会损害蛋白质功能,可能导致卵细胞成熟缺陷,受精失败和胚胎停产.

结论:

已识别的PATL2变异扩大了与女性不孕症相关的已知谱.
这些发现为无法解释的不孕不育病例的遗传咨询提供了宝贵的见解.
了解PATL2缺陷机制可以提高对卵细胞成熟停止的了解.

关键词:

这就是PATL2的原因.基因分析基因分析卵子细胞成熟停止停止主要不孕不育的原因

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