Arachnomelia Syndrome(AS) is an autosomal recessive disease, which was found mainly in German Simmental and European Brown Swiss cattle.Affected calves showed severe skeleton malformation and were dead at bom or soon after birth.There was evidence that AS in European Brown Swiss was caused by a single nucleotideleotide insertion c.363-364insG in the exon 4 of SUOX gene, which encodes Sulfite Oxidase.In current study, we established two molecular detection methods of identifying the causative mutation for AS in Brown Swiss: fluorescently labeled primer PCR product electrophoresis and directly PCR product sequencing.With fluorescently labeled primer PCR product electrophoresis, there was no carrier identified in all 187 samples of 10 cattle breeds.Fluorescently labeled primer PCR product electropboresis enabled fast and reliable individual genotyping with lower cost, which was ideal for large population screening.Since China has imported embryos and semen of Brown Swiss from other countries, mutation for AS may be introduced and could be spread to local cattle population.Therefore, it is necessary to screen the causative mutation in cattle population related with Brown Swiss, such as Xinjiang Brown Cattle and their crossbreds, especially the breeding bulls, in order to avoid great economic loss through spreading of this genetic defect.%牛蜘蛛腿综合征(Arachnomelia Syndrome,AS)是一种常染色体隐性遗传病,现主要见于德系西门塔尔牛和欧洲瑞士褐牛.患病犊牛先天骨骼系统严重畸形,出生即死亡或出生不久死亡.已证实瑞士褐牛蜘蛛腿综合征是由编码亚硫酸盐氧化酶的基因SUOX外显子4上一个单碱基插入突变c.363-364insG所致.本研究首次建立了瑞士褐牛蜘蛛腿综合征致病基因突变位点分子筛查的方法:荧光引物PCR产物电泳法和PCR产物直接测序法.使用荧光引物PCR产物电泳法对10个品种187头牛样本进行该突变位点的基因型分型,没有发现携带该致病基因的个体.荧光引物PCR产物电泳法判定基因型快速可靠,实验成本较低,适合大规模群体的检测.由于我国曾多次进口瑞士褐牛遗传物质,可能将该致病基因引入本地牛群体.因此对我国相关牛群开展AS隐性不利基因的筛查是必要的,尤其是针对种公牛进行筛查,可避免该致病基因在群体的传播造成重大经济损失.
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