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A de novo reciprocal chromosomal translocation t(3;6)(p14;q26) in the black Lucano pig.
Reproduction in Domestic Animals ( IF 1.6 ) Pub Date : 2020-03-03 , DOI: 10.1111/rda.13664
Viviana Genualdo 1 , Cristina Rossetti 1 , Alfredo Pauciullo 1, 2 , Petra Musilova 3 , Domenico Incarnato 1 , Angela Perucatti 1
Affiliation  

In the past two decades, several cytogenetic screening programmes identified different chromosome rearrangements in pig, most of which represented by reciprocal translocation (rcp). This chromosome abnormality does not involve the variation in the number of chromosomes, but only the rearrangement of genetic material, resulting in phenotypically normal carriers with fertility problems. During an occasional cytogenetic screening, a new reciprocal translocation was detected in the black Lucano pig native breed. We analysed 15 animals reared by a family‐run piggery in Basilicata region (Southern Italy). After karyotyping, four pigs (two boars and two sows) revealed two unpaired chromosomes. Analysis of the RBA karyotype and the dual‐colour FISH technique confirmed that these pigs showed the same reciprocal translocation involving the chromosomes SSC3 and SSC6. The precise location of breakpoints was identified by RBH‐FISH t(3;6)(p14;q26), whereas the analysis of the pedigree showed a case of Mendelian inheritance within a family, after the de novo occurrence of the new rcp. Considering the consequences of the rcp on the fertility, this study points out the importance of the cytogenetic screening in the native breeds for the safeguard of the genetic biodiversity and the sustainability of the rural areas.

中文翻译:

黑色Lucano猪的从头互易染色体易位t(3; 6)(p14; q26)。

在过去的二十年中,一些细胞遗传学筛查程序确定了猪中不同的染色体重排,其中大多数以相互易位(rcp)为代表。该染色体异常不涉及染色体数目的变化,而仅涉及遗传物质的重排,从而导致具有育性问题的表型正常携带者。在偶尔的细胞遗传学筛选中,在黑色卢卡诺猪的本地品种中检测到新的相互易位。我们分析了巴西利卡塔地区(意大利南部)由家庭经营的猪饲养的15只动物。核型分析后,四头猪(两只公猪和两只母猪)显示出两条未配对的染色体。对RBA核型和双色FISH技术的分析证实,这些猪表现出相同的相互易位,涉及SSC3和SSC6染色体。RBH-FISH t(3; 6)(p14; q26)可以确定断点的精确位置,而对系谱的分析显示,在新的rcp重新出现后,家族中发生了孟德尔遗传。考虑到rcp对生育力的影响,这项研究指出了在本地品种中进行细胞遗传学筛选对于保护遗传生物多样性和农村地区可持续性的重要性。
更新日期:2020-03-03
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