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。
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 co-factor synthesis step 1 (MOCS1) gene, respectively. In the current study, combining fluorescence PCR with capil-lary 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.
[1] Rieck GW, Schade W. Arachnomelia (spider limbs), a new hereditary fatal malformation syndrome of cattle. Dtsch Tierärztl Wochenschr, 1975, 82(9): 342-347.
[2] Drögemüller C, Rossi M, Gentile A, Testoni S, Jörg H, Stranzinger G, Drögemüller M, Glowatzki-Mullis ML, Leeb T. Arachnomelia in Brown Swiss cattle maps to chromosome 5. Mamm Genome, 2009, 20(1): 53-59.
[3] Drögemüller C, Tetens J, Sigurdsson S, Gentile A, Testoni S, Lindblad-Toh K, Leeb T. Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone dvel-opment. PLoS Genet, 2010, 6(8): e1001079.
[4] Buitkamp J, Semmer J, Götz KU. Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1). BMC Genet, 2011, 12: 11.
[5] 焦士会, 王雅春, 张沅. 牛蜘蛛腿综合征: 一种骨骼系统畸形遗传疾病. 遗传, 2011, 33(1): 36-39.
[6] 郑丕留, 张仲葛, 陈效华, 涂友仁. 中国牛品种志. 上海: 上海科学技术出版社, 1988.
[7] 陈慧勇. 利用中国荷斯坦牛定位BTA6上影响产奶性状的QTLs[学位论文]. 北京: 中国农业大学, 2005.
[8] 程本义, 夏俊辉, 龚俊义, 杨仕华. SSR荧光标记毛细管电泳检测法在水稻DNA指纹鉴定中的应用. 中国水稻科学, 2011, 25(6): 672-676.
[9] 李荣岭, 张桂香, 王志刚, 王慧, 韩旭, 王冬蕾, 王均辉. 微卫星标记对12个中外牛品种群体遗传结构的研究. 遗传, 2007, 29(12): 1463-1470.
[10] 焦士会, 田月珍, 努尔比亚·吾布力, 吴宏军, 刘爱荣, 张胜利, 黄锡霞, 王雅春, 张沅. 瑞士褐牛蜘蛛腿综合征致病位点检测方法的建立. 中国奶牛, 2011, (10): 1-5.
[11] 田月珍, 焦士会, 谭世新, 周光瑞, 黄锡霞, 王雅春, 张胜利, 张沅. 新疆褐牛蜘蛛腿综合征的遗传检测. 畜牧与兽医, 2012, 44(7): 77-79.
[12] 席艾力·依明, 王雅春, 黄锡霞, 田可川, 田月珍, 郭俊清, 谭世新, 付雪峰, 热伊莱·伊卜拉伊木. 新疆褐牛核心群母牛蜘蛛腿综合征的遗传检测. 中国兽医学报, 2012, 32(9): 1295-1298.
[13] Chu Q, Sun DX, Yu Y, Zhang Y, Zhang Y. Identification of complex vertebral malformation carriers in Chinese Hol-stein. J Vet Diagn Invest, 2008, 20(2): 228-230.
[14] 孙艺, 孙东晓, 张沅. 中国荷斯坦牛白细胞粘附缺陷病遗传分析. 中国奶牛, 2007, (11): 7-10.
[15] 谢岩, 范学华, 吴晓平, 张毅, 刘林, 公维嘉, 陈绍祜, 孙东晓, 张胜利, 张沅. 中国荷斯坦公牛CN和DUMPS遗传缺陷检测及系谱分析. 畜牧兽医学报, 2012, 43(3): 376-381.
