牛蜘蛛腿综合征两个致病位点检测方法的建立

摘要

Arachnomelia syndrome (AS) is a recessive inherited disease in cattle. Although the arachnomelia phenotypes are virtually identical in Brown Swiss and Simmental cattle, the causative mutation are different, which are a 1 bp insertion c.363-364insG in the sulfite oxidase (SUOX) gene and a 2 bp deletion c.l224_1225delCA in the molybdenum cofactor synthesis step 1 (MOCS1) gene, respectively. In the current study, combining fluorescence PCR with capillary electrophoresis technology, an automatic fluorescence method was established, which could detect the two causative loci rapidly and correctly with a single reaction. Samples from 51 Simmental bulls, 80 cows mated artificially using semen of Simmental bulls and their resulted 106 progeny, together with 55 Xinjiang Brown were collected and used for validation of the newly designed methods. Our results have laid a foundation for screening AS disease causing mutations in Chinese cattle.%牛蜘蛛腿综合征(Arachnomelia syndrome,AS)是一种隐性遗传疾病,虽然在瑞士褐牛和西门塔尔牛中症 状相同,然而却是由两个不同的基因突变引起的,分别是SUOX 基因c.363-364insG 突变和MOCS1 基因 c.1224_1225delCA 突变.文章利用51 头西门塔尔牛及80 头与配母牛和106 头杂交后代,以及55 头新疆褐牛 公牛为研究群体,通过荧光标记引物PCR 扩增结合毛细管电泳技术,建立了一种荧光自动化检测方法,能够快 速、准确、一次性实现对引起牛AS 疾病的两个突变位点的同时检测,为今后我国牛群中AS 致病位点的筛查 工作奠定了基础.