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[牛蛛网膜发育不全综合征两个致病基因检测方法的建立]

[Establishment of the detection method for two causative genes of cattle arachnomelia syndrome].

作者信息

Chu Qin, Jiao Shi-Hui, Wang Ya-Chun, Liu Lin, Liu Ai-Rong, Wu Hong-Jun, Xie Zhen-Quan, Hou Shi-Yu, Geng Fan-Jun, Wang Cong-Yong, Huang Xi-Xia, Tan Shi-Xin, Tan Rui, Zhang Yi, Yu Ying, Zhang Yuan

机构信息

Beijing Academy of Agriculture and Forestry Sciences, Beijing, China.

出版信息

Yi Chuan. 2013 May;35(5):623-7. doi: 10.3724/sp.j.1005.2013.00623.

Abstract

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.1224_1225delCA in the molybdenum cofactor syn-thesis 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 cor-rectly 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 de-signed methods. Our results have laid a foundation for screening AS disease causing mutations in Chinese cattle.

摘要

蜘蛛肢短小综合征(AS)是牛的一种隐性遗传疾病。尽管瑞士褐牛和西门塔尔牛的蜘蛛肢短小表型几乎相同,但致病突变不同,分别是亚硫酸盐氧化酶(SUOX)基因中的1个碱基对插入c.363 - 364insG和钼辅因子合成步骤1(MOCS1)基因中的2个碱基对缺失c.1224_1225delCA。在本研究中,将荧光PCR与毛细管电泳技术相结合,建立了一种自动荧光方法,该方法可以通过一次反应快速、准确地检测这两个致病位点。收集了51头西门塔尔公牛、80头使用西门塔尔公牛精液人工授精的母牛及其106头后代的样本,以及55头新疆褐牛的样本,用于验证新设计的方法。我们的结果为筛选中国牛中AS疾病致病突变奠定了基础。

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