We report 2 novel autosomal translocations in the horse. In Case 1, a breeding stallion with a balanced t(4p;30) had produced normal foals and those with congenital abnormalities. Of his 9 phenotypically normal offspring, 4 had normal karyotypes, 4 had balanced t(4p;30), and 1 carried an unbalanced translocation with tertiary trisomy of 4p. We argue that unbalanced forms of t(4p;30) are more tolerated and result in viable congenital abnormalities, without causing embryonic death like all other known equine autosomal translocations. In Case 2, two stallions produced by somatic cell nuclear transfer from the same donor were karyotyped because of fertility issues. A balanced translocation t(12q;25) was found in one, but not in the other clone. The findings underscore the importance of routine cytogenetic screening of breeding animals and animals produced by assisted reproductive technologies. These cases will contribute to molecular studies of translocation breakpoints and their genetic consequences in the horse.
Cytogenet Genome Res

中文翻译：

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马中常染色体易位的两个新颖案例：分隔t（4; 30）的Warmblood家庭和一个从头t（12; 25）的克隆阿拉伯人

我们在马中报告了2种新颖的常染色体易位。在案例1中，t（4p; 30）平衡的种马产生了正常的小马驹和先天性异常的小马驹。在他的9个表型正常的后代中，有4个具有正常的核型，有4个具有平衡的t（4p; 30），有1个具有不平衡的易位性，三体三体性为4p。我们认为，不平衡形式的t（4p; 30）更能容忍并导致可行的先天性异常，而不会像所有其他已知的马常染色体易位一样引起胚胎死亡。在案例2中，由于生育问题，从同一供体通过体细胞核转移产生的两种种马进行了核型分析。在一个克隆中发现了平衡的易位t（12q; 25），而在另一个克隆中未发现。这些发现强调了对育种动物和辅助生殖技术生产的动物进行常规细胞遗传学筛选的重要性。这些案例将有助于对易位转折点及其在马中的遗传后果的分子研究。
细胞遗传基因组研究