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识别了与早期胚胎停产相关的新型SCMC基因变异

Changlong Zhang^{1,2,3,4,5,6,7}, Shuai Zhao^{1,2,3,4,5,6,7}, Honghui Zhang^{1,2,3,4,5,6,7}

¹State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong, China.

Clinical genetics

|January 31, 2025

概括

皮下母体复合体 (SCMC) 的遗传变异与女性早期胚胎停产 (EEA) 有关. 这项研究在5.3%的EEA病例中发现了新的SCMC基因变异,有助于诊断女性不孕症.

科学领域:

生殖生物学生殖生物学
人类遗传学人类遗传学
发育生物学是发展生物学.

背景情况:

皮下母体综合体 (SCMC) 在卵细胞转化为胚胎过程中起着至关重要的作用.
SCMC基因中的遗传变异与早期胚胎停产 (EEA) 有关.

研究的目的:

调查SCMC基因中的双样致病变体与女性早期胚胎停产 (EEA) 之间的关联.
扩大与EEA相关的女性不孕症的遗传理解.

主要方法:

在303名患有EEA的女性身上进行了全外体序列测序.
在SCMC基因 (NLRP2,NLRP5,PADI6,TLE6) 中发现和描述致病变异.
用功能预测 (mCSM) 和分子分析 (RT-PCR,cDNA测序) 来评估变体的影响.

主要成果:

在16名患者 (5.3%的EEA病例) 中发现了SCMC基因的双性致病变体.
最常见的是NLRP5变种 (43.8%的SCMC确诊病例).
发现了23种新型变体,包括误解,功能丧失,插入和删除类型;预计9种误解变体会破坏SCMC结构的稳定性. 一种TLE6变种影响了拼接,并诱导了无意中介衰变.

结论:

在SCMC基因中的新型双变异与人类早期胚胎停产有关.
这些发现扩大了EEA遗传原因的范围.
通过识别这些SCMC基因变异,可以改善EEA女性不孕症的遗传诊断.

关键词:

早期的胚胎停产.女性不孕症女性不孕症遗传变异是一种遗传变异.皮层下母体复合体皮层下母体复合体

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