基因组测序以检测狗的杂交品质:研究性发育障碍的一个例子
Luciana de Gennaro1, Matteo Burgio2, Giovanni Michele Lacalandra2
1Department of Biosciences, Biotechnology and Environment, University of Bari, Via Orabona 4, 70124 Bari, Italy.
International journal of molecular sciences
|October 16, 2024
概括
对一只患有性发育障碍 (DSD) 的法国斗牛犬的遗传分析揭示了罗伯逊的融合和高近亲繁殖,这表明不受控制的繁殖做法会影响狗的遗传健康.
科学领域:
- 兽医遗传学 兽医遗传学
- 狗的繁殖 狗的繁殖
- 发展生物学 发展生物学
背景情况:
- 狗的性发育障碍 (DSD) 与人类的状况有相似之处,由于遗传或发育异常.
- 法国斗牛犬品种的DSD发病率呈上升趋势,与其日益增长的人气相吻合.
- 了解DSD的遗传基础对于品种健康管理至关重要.
研究的目的:
- 在法国斗牛犬具有模两可的生殖器官中对DSD进行遗传特征.
- 调查繁殖方式对法国斗牛犬品种遗传多样性的影响.
- 为了确定可能导致这种品种DDS的遗传因素.
主要方法:
- 包括常规细胞遗传学和深度测序在内的全面遗传分析.
- 对比基因组学:比较布鲁特斯的基因组与其他三只法国公牛犬的雄性基因组和犬类参考基因组 (CanFam6).
- 罗伯茨的融合,性别决定区域 (SRY) 基因,单核酸变体 (SNVs) 和同性 (ROH) 的分析.
主要成果:
- 确定了23号染色体上的罗伯逊融合,这是已知的性别逆转综合征的原因.
- 检测到了马赛克主义 (78,XX/77,XX) 和SRY基因的缺失.
- 增加的同胞性 (50%更大的ROH长度) 表明潜在的兄弟姐妹交配,这表明近亲繁殖影响了DSD发病率.
结论:
- 虽然没有确定布鲁特斯的DSD表型的直接致病基因,但四个候选位点需要进一步研究.
- 为了准确的表型-基因关联,需要更强大的犬类参考基因组.
- 法国斗牛犬的不受控制的繁殖做法有助于DSD和减少遗传多样性,需要战略遗传管理.
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