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细胞染色体B基因 (MT-CYB) 的单核酸多态 rs527236194 与精子参数的改变有关

Yulia Yu Gromenko^1,2, Kamil S Galimov³, Irina R Gilyazova²

¹Medical Center "Family", Ufa, 450054, Russia.

Molecular biology reports

|November 3, 2023

概括

线粒体DNA突变,特别是MT-CYB基因中的rs527236194,与男性不孕症和精子质量降低有关. 需要进一步的研究来证实在更大的群体中这种关联.

科学领域:

遗传学遗传学是一个
生殖生物学生殖生物学
线粒体基因组学线粒体基因组学

背景情况:

线粒体基因组由于其结构和母系遗传,容易发生突变和多态.
线粒体单核酸多态 (mtSNP) 可以在精子中积累.
研究MT-CYB基因对精子质量影响的突变至关重要.

研究的目的:

分析线粒体细胞染色体B (MT-CYB) 基因突变对精子质量的影响.
确定与男性不孕症相关的特定mtSNP.

主要方法:

与肥沃男性相比,一项涉及患有阿斯诺特子精和奥利戈阿斯诺特子精的男性的病例对照研究.
使用TaqMan测定方法提取和分析三种特定的MT-CYB基因多态 (rs28357373,rs527236194,rs2853506) 的mtDNA.
自动化的桑格DNA测序用于突变验证.

主要成果:

在MT-CYB基因中的多态性rs527236194显著与阿斯诺特拉托动物精子症有关.
在研究的人群中,没有发现rs28357373或rs2853506与男性精子异常之间的关联.
对于rs28357373的TT基因型在伏尔加-乌拉尔地区是罕见的.

结论:

rs527236194变种显示在男性不孕症的病理生理学中发挥了潜在的作用.
需要对更大样本进行进一步的研究,以确认rs527236194与精子参数变化之间的关联.
在MT-CYB基因中mtDNA突变与男性生殖健康有关.

关键词:

阿斯诺特拉托佐索精子缺陷症细胞染色体B 细胞染色体B 异形不孕症不孕症是什么意思线粒体DNA是线粒体的DNA.突变突变突变突变奥利戈阿斯诺特拉托佐佐精子缺陷症

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