使用全基因组测序的精准医学确定了一种新型的X关联肌肉发育不良症 (X-linked muscular dystrophy) 的新型发育不良症 (DMD) 变体在猫身上
G Diane Shelton1, Fabrizio Tucciarone2, Ling T Guo1
1Department of Pathology, School of Medicine, University of California San Diego, La Jolla, California, USA.
Journal of veterinary internal medicine
|January 5, 2024
概括
一只家养的短毛猫被诊断出患有X相关肌肉发 (MD),原因是发基因变异. 这种诊断利用了临床,分子和基因组方法,有助于MD的动物模型发现.
科学领域:
- 兽医遗传学 兽医遗传学
- 进行比较基因组学.
- 人类疾病的动物模型
背景情况:
- 肌肉发育不良 (MDs) 包含各种退行性肌肉疾病.
- 猫的X相关双氨酸缺乏的MD作为人类疾病的关键动物模型.
- 在猫种群中继续发现新的MD形式.
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