Finno Carrie J, Spier Sharon J, Valberg Stephanie J
Veterinary Medical Teaching Hospital, University of California, Davis, CA 95616, USA.
Vet J. 2009 Mar;179(3):336-47. doi: 10.1016/j.tvjl.2008.03.016. Epub 2008 May 9.
The recent development of equine genome maps by the equine genome community and the complete sequencing of the horse genome performed at the Broad Institute have accelerated the pace of genetic discovery. This review focuses on genetic diseases in the horse for which a mutation is currently known, including hyperkalemic periodic paralysis, severe combined immunodeficiency, overo lethal white syndrome, junctional epidermolysis bullosa, glycogen branching enzyme deficiency, malignant hyperthermia, hereditary equine regional dermal asthenia, and polysaccharide storage myopathy. Emphasis is placed on the prevalence, clinical signs, etiology, diagnosis, treatment and prognosis for each disease.
马基因组研究团队近期绘制的马基因组图谱以及布罗德研究所完成的马基因组全序列测定，加快了遗传发现的步伐。本综述聚焦于目前已知存在突变的马遗传疾病，包括高钾性周期性麻痹、严重联合免疫缺陷、奥洛致死白综合征、交界性大疱性表皮松解症、糖原分支酶缺乏症、恶性高热、遗传性马区域性皮肤无力症和多糖贮积性肌病。重点阐述了每种疾病的发病率、临床症状、病因、诊断、治疗及预后情况。
