对SRY阴性38,XX-DSD猪的病理特征:一个家庭病例报告
Jinhua Wu1, Haiyi Yu2, Yuqiao Zhang3
1Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Life Science and Engineering, Foshan University, Foshan 528225, China.
Animal reproduction science
|August 27, 2024
概括
亲生繁殖可能会导致猪的XX性发育障碍 (DSD),导致雄性伪性恋和丸功能受损. 这项研究详细介绍了它们的遗传和病理特征,为DSD机制提供了洞察力.
科学领域:
- 兽医遗传学 兽医遗传学
- 生殖生物学 生殖生物学
- 动物病理学 动物病理学
背景情况:
- 性发育障碍 (DSD) 是一种先天性疾病,影响染色体,淋巴体或解剖性发育.
- XX-DSD猪对养猪和工业进步产生负面影响,但人们对它们的病因学了解甚少.
- 有限的系统报告存在于家庭环境中青春期前XX-DSD猪的遗传和病理特征.
研究的目的:
- 在家庭背景下调查一月大的XX-DSD猪的遗传和病理特征.
- 提供表型信息,以阐明猪中XX-DSD的致病机制.
- 了解近亲繁殖在XX-DSD猪的病变发生过程中的作用.
主要方法:
- 关于XX-DSD猪的家庭案例研究.
- 使用血素和欧 (HE) 染色的组织病理学检查.
- 丸组织的超结构分析.
- 对SOX9和FOXL2.2进行免疫光染色.
- 激素水平评估,以评估下丘脑 - 垂体 - 淋巴腺轴 (HPGA) 功能.
主要成果:
- 亲生繁殖被确定为研究家族中XX-DSD病原发生的潜在贡献因素.
- 所有XX-DSD猪在染色体上都是雌性,但表现出不同程度的男性化.
- 丸组织学揭示了Sertoli,Leydig和生殖细胞的病理损伤,有异常的精卵管和功能受损.
- 在XX-DSD猪丸中观察到高SOX9和最低FOXL2表达.
- 生殖激素分泌失调表明HPGA功能异常.
结论:
- 在这个家族病例中,XX-DSD猪表现出雄性伪雌性性异性,表型异质性和丸功能受损.
- 在这种猪群中,近亲繁殖可能在XX-DSD的发展中发挥重要作用.
- SOX9和FOXL2的异常表达,以及HPGA功能障碍,有助于XX-DSD的发病.
- 这项研究提供了对猪XX-DSD背后的遗传和病理机制的关键见解.
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