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Sperm nuclei analysis of 1/29 Robertsonian translocation carrier bulls using fluorescence in situ hybridization

机译:荧光原位杂交技术分析1/29罗伯逊易位携带者公牛的精子核

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摘要

In 1964, Gustavsson and Rockborn first described the 1/29 Robertsonian translocation in cattle. Since then, several studies have demonstrated the negative effect of this particular chromosomal rearrangement on the fertility of carrier animals. During the last decade, meiotic segregation patterns have been studied on human males carrying balanced translocations using FISH on decondensed sperm nuclei. In this work, we have applied the `Sperm-FISH' technique to determine the chromosomal content of spermatozoa from two bulls heterozygous for the 1/ 29 translocation and one normal bull ( control). 5425 and 2702 sperm nuclei were scored, respectively, for the two heterozygous bulls, using whole chromosome painting probes of chromosomes 1 and 29. Very similar proportions of normal ( or balanced) spermatozoa resulting from alternate segregation were observed ( 97.42% and 96.78%). For both heterozygous bulls, the proportions of nullisomic and disomic spermatozoa did not follow the theoretical 1: 1 ratio. Indeed, proportions of nullisomic spermatozoa were higher than those of disomic spermatozoa ( 1.40% vs 0.09% ( bull 1) and 1.29% vs 0.15% ( bull 2) for BTA1, and 0.65% vs 0.40% ( bull 1) and 1.11% vs 0.63% ( bull 2) for BTA29). The average frequencies of disomic and diploid spermatozoa in the normal bull were 0.11% and 0.05%, respectively.
机译:1964年,Gustavsson和Rockborn首先描述了牛的1/29罗伯逊易位。从那以后,几项研究证明了这种特定的染色体重排对携带动物的生育能力的负面影响。在过去的十年中,已经对通过精子精子核上的FISH进行平衡易位的男性雄性进行了减数分裂分离模式的研究。在这项工作中,我们应用了“精子-FISH”技术来确定来自1/29易位的两头杂合子和一只正常公牛(对照)的精子的染色体含量。使用1号和29号染色体的全染色体绘画探针,分别为两个杂合的公牛分别获得了5425和2702个精子核的分数。观察到非常相似比例的正常(或平衡)精子由交替分离产生的比例(97.42%和96.78%) 。对于这两个杂合的公牛,无效的和二体的精子的比例都不遵循理论的1:1比例。确实,无效等量精子的比例高于二体性精子(BTA1为1.40%vs 0.09%(第1公牛)和1.29%vs 0.15%(第2公牛),0.65%vs 0.40%(第1公牛)和1.11%vs。 BTA29为0.63%(第2牛)。正常公牛的二体和二倍体精子的平均频率分别为0.11%和0.05%。

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