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存在导致 1 型多糖贮积性肌病的糖原合酶 1 (GYS1)突变,这种突变存在于欧洲大陆役用马品种中。

Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds.

机构信息

Department of Clinical Studies, Ontario Veterinary College, University of Guelph, Guelph, Ontario, N1G 2W1, Canada.

出版信息

Vet Rec. 2010 Nov 13;167(20):781-4. doi: 10.1136/vr.c3447.

Abstract

The purpose of this study was to determine which continental European draught horse breeds harbour a mutation in the glycogen synthase 1 gene (GYS1) that is known to be responsible for type 1 polysaccharide storage myopathy in quarter horses and North American draught horses. Of a non-random selection of continental European draught horses belonging to 13 breeds, 62 per cent (250 of 403) tested were found to carry the mutant allele. The horses were located in Belgium, France, Germany, The Netherlands, Spain and Sweden. The mutation was identified in animals from each of the breeds examined. In the breeds in which more than 15 animals were available for testing, the highest percentages of GYS1-positive horses were found in the Belgian trekpaard (92 per cent; 35 of 38 horses tested), Comtois (80 per cent; 70 of 88), Netherlands trekpaard (74 per cent; 17 of 23), Rheinisch-Deutsches kaltblut (68 per cent; 30 of 44) and Breton (64 per cent; 32 of 51).

摘要

本研究旨在确定哪些欧洲大陆的挽马品种携带有糖原合酶 1 基因(GYS1)的突变,这种突变已知是导致夸特马和北美挽马 1 型多糖贮积性肌病的原因。在随机选择的来自 13 个品种的非欧洲大陆挽马中,发现 62%(403 匹马中的 250 匹)携带有突变等位基因。这些马分布在比利时、法国、德国、荷兰、西班牙和瑞典。在每个被检查的品种中都发现了这种突变。在可用于检测的马超过 15 匹的品种中,GYS1 阳性马的最高比例出现在比利时特雷克帕德(92%;38 匹检测马中有 35 匹)、科托伊斯(80%;88 匹中有 70 匹)、荷兰特雷克帕德(74%;23 匹中有 17 匹)、莱茵兰-德意志冷血马(68%;44 匹中有 30 匹)和布列塔尼(64%;51 匹中有 32 匹)。

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