Ghosh S, Das P J, Avila F, Thwaits B K, Chowdhary B P, Raudsepp T
Texas A&M University, College Station, TX, USA.
National Research Centre on Yak, Dirang, Arunachal Pradesh, India.
Reprod Domest Anim. 2016 Feb;51(1):171-4. doi: 10.1111/rda.12636. Epub 2015 Nov 6.
Balanced autosomal translocations are a known cause for repeated early embryonic loss (REEL) in horses. In most cases, carriers of such translocations are phenotypically normal, but the chromosomal aberration negatively affects gametogenesis giving rise to both genetically balanced and unbalanced gametes. The latter, if involved in fertilization, result in REEL, whereas gametes with the balanced form of translocation will pass the defect into next generation. Therefore, in order to reduce the incidence of REEL, identification of translocation carriers is critical. Here, we report about a phenotypically normal 3-year-old Arabian mare that had repeated resorption of conceptuses prior to day 45 of gestation and was diagnosed with REEL. Conventional and molecular cytogenetic analyses revealed that the mare had normal chromosome number 64,XX but carried a non-mosaic and non-reciprocal autosomal translocation t(4;10)(q21;p15). This is a novel translocation described in horses with REEL and the first such report in Arabians. Previous cases of REEL due to autosomal translocations have exclusively involved Thoroughbreds. The findings underscore the importance of routine cytogenetic screening of breeding animals.
平衡常染色体易位是马反复早期胚胎丢失(REEL)的已知原因。在大多数情况下,此类易位的携带者表型正常,但染色体畸变对配子发生产生负面影响,导致产生遗传平衡和不平衡的配子。后者若参与受精,会导致REEL,而具有平衡易位形式的配子会将缺陷传递给下一代。因此,为了降低REEL的发生率,识别易位携带者至关重要。在此,我们报告一匹表型正常的3岁阿拉伯母马,其在妊娠45天前反复出现胚胎吸收,并被诊断为REEL。常规和分子细胞遗传学分析显示,该母马染色体数目正常,为64,XX,但携带一种非嵌合且非相互的常染色体易位t(4;10)(q21;p15)。这是在患有REEL的马中描述的一种新型易位,也是阿拉伯马中的首例此类报告。先前因常染色体易位导致REEL的病例仅涉及纯种马。这些发现强调了对种畜进行常规细胞遗传学筛查的重要性。