与HCM相关的ALMS1变异:意大利Sphynx猫的基因脱落和频率
Maria Elena Turba1, Paolo Ferrari2,3, Raffaella Milanesi4
1Genefast srl, Forlì, Italy.
Animal genetics
|June 22, 2023
概括
在Sphynx猫群中,对高性心肌病 (HCM) 的基因检测揭示了ALMS1基因附近的新变异. 这些发现对于精确的基因查和在品种中管理HCM至关重要.
科学领域:
- 兽医遗传学 兽医遗传学
- 狗和猫科动物医学
- 分子诊断学 分子诊断学
背景情况:
- 增高性心肌病 (Hypertrophic cardiomyopathy,简称HCM) 是一种在家猫,特别是斯芬克斯犬种中普遍存在的心脏病.
- 一种先前确定的ALMS1基因变异 (g.92439157G>C) 与斯芬克斯猫的HCM有关,这促使意大利采取基因查举措.
研究的目的:
- 为了调查Sphynx猫的ALMS1变异的遗传测试不一致性.
- 识别影响HCM基因查准确性的新型遗传变异.
- 为ALMS1变种开发改进的基因型定型方法.
主要方法:
- 使用桑格测序进行初始遗传查.
- 设计和测试一种新的初始配对,以克服等位基因脱落 (ADO).
- 使用桑格测序检测新型单核酸变体 (SNVs).
- 开发和应用一个实时的TaqMan MGB测定,用于准确的基因型鉴定.
主要成果:
- 在ALMS1 g.92439157G>C位点附近发现了五种新型SNV,其中三种可能导致ADO.
- 发现ALMS1 g.92439157 C变种在136只查的斯芬克斯猫中非常频繁 (>0.50).
- 在来自不同血统的猫中发现了一种包括ADO引起的SNVs的哈普洛型.
结论:
- 周围SNV的存在需要仔细的初始设计,以准确的ALMS1变异基因型.
- 需要进行进一步的研究,通过临床评估将g.92439157 C变种的频率与HCM流行率相关联.
- 建议进行遗传咨询,以有效管理意大利斯芬克斯猫的交配计划,以控制HCM.
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