Muscle Weakness - new genetic defect transmitted to Polish Holstein-Friesian cattle.

S Kamiński
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Abstract

The aim of the study was to find out whether carriers of new genetic defect Muscle Weakness (MW) occur in the population of Polish Holstein-Friesian bulls. Fifty bulls were included in the analysis. Bulls were selected as having in the pedigree known carrier of MW. All bulls were diagnosed by DNA sequencing of CACNA1S gene containing single nucleotide substitution (rs3423414874) responsible for 97% of MW cases. Among 50 bulls, 19 MW carriers were found. Our results show that causal mutation for MW is already transmitted to Polish Holstein-Friesian cattle which is sufficient ground to take practical action in order to avoid further spreading of mutation causing MW.

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肌肉无力-波兰荷尔斯泰因-弗里西亚牛的新遗传缺陷。
该研究的目的是找出波兰荷尔斯坦-弗里西亚公牛群体中是否存在新的遗传缺陷肌肉无力(MW)的携带者。50头公牛被纳入分析。公牛被选为在谱系中已知的MW载体。所有公牛均通过含有单核苷酸替代的CACNA1S基因(rs3423414874)的DNA测序进行诊断,该基因负责97%的MW病例。在50头公牛中,发现了19个MW携带者。我们的研究结果表明,波兰荷尔斯坦-弗里西亚牛的致病突变已经传播给了波兰荷尔斯坦-弗里西亚牛,这就有充分的理由采取实际行动,以避免致病突变的进一步传播。
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