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卵细胞成熟停止的遗传因素:反复出现IVF/ICSI失败的一个重要原因

Weijie Wang¹, Qing Sang², Lei Wang^3,4

¹International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200030, China.

Journal of assisted reproduction and genetics

|July 9, 2024

概括

在患有卵细胞成熟停止 (OMA) 的患者中发现了PATL2和ZFP36L2的新遗传变异,这是不孕症的原因. 实验室研究证实这些变体破坏蛋白质功能,有助于OMA的遗传咨询.

科学领域:

生殖生物学生殖生物学
人类遗传学人类遗传学
辅助生殖技术是一种辅助生殖技术.

背景情况:

卵细胞成熟停止 (OMA) 是不孕不育的常见原因,在辅助生殖周期中表现为不成熟的卵细胞.
虽然遗传因素与OMA有关,但许多患者的特定遗传机制仍然不清楚.
识别致病基因对于理解OMA病原体和改善生育治疗至关重要.

研究的目的:

确定与卵细胞成熟停止 (OMA) 相关的新型遗传变异.
在体外 (in vitro) 检查已识别的变异对蛋白质功能的功能影响.
扩大OMA已知的遗传基础,并为遗传咨询提供信息.

主要方法:

在患有OMA的患者中进行全外体测序或向基因测序.
实验室功能测试以评估已识别的基因变异对蛋白质活性的影响.
生物信息分析用于预测新型变异的病原性.

主要成果:

在一些OMA患者中发现了PATL2基因的新变异.
在其他OMA患者中发现了ZFP36L2基因的新变异.
在体外实验表明,这些变体会损害PATL2和ZFP36L2蛋白质的正常功能.

结论:

PATL2和ZFP36L2的遗传变异与卵细胞成熟停止的病原发生有关.
这些发现扩大了导致OMA的已知突变的范围.
这项研究为改善因OMA而导致不孕症的个体的遗传诊断和咨询提供了基础.

关键词:

女性不孕症妇女不孕症基因突变是一种基因突变.遗传学是一个遗传学.在IVF/ICSI中失败.卵子细胞成熟停止停止

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