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绵羊中一种新型相互易位的细胞遗传学阐述

Cytogenetic elaboration of a novel reciprocal translocation in sheep.

作者信息

Iannuzzi A, Perucatti A, Genualdo V, De Lorenzi L, Di Berardino D, Parma P, Iannuzzi L

机构信息

Laboratory of Animal Cytogenetics and Gene Mapping, National Research Council (CNR) of Italy, ISPAAM, Naples, Italy.

出版信息

Cytogenet Genome Res. 2013;139(2):97-101. doi: 10.1159/000346193. Epub 2013 Jan 16.

Abstract

Reciprocal translocations represent one of the most common structural chromosomal rearrangements observed in both humans and domestic animals. In these translocations, the balanced forms are most frequent but may remain undetected because the carriers show a normal phenotype. For this reason, routine cytogenetic analysis of domestic animals should necessarily rely on banded karyotypes. In fact, during a screening analysis, carried out on phenotypically normal young sheep (Ovis aries, OAR, 2n = 54) from Laticauda-Comisana hybrids, a new structural rearrangement was detected. Two abnormal acrocentric chromosomes (the smallest and the largest one) were found in all metaphases of this carrier animal, suggesting the presence of a reciprocal translocation (rcp). CBA and RBA banding were performed in order to characterize the translocation, and FISH with chromosome-specific BAC probes and telomere probes was applied to confirm the cytogenetic data. The translocation was classified as rcp(4q;12q)(q13;q25).

摘要

相互易位是人类和家畜中最常见的染色体结构重排之一。在这些易位中,平衡型最为常见,但可能未被发现,因为携带者表现出正常的表型。因此,家畜的常规细胞遗传学分析必须依赖带型核型。事实上,在对来自拉蒂库达-科米萨纳杂种的表型正常的年轻绵羊(绵羊,OAR,2n = 54)进行的筛选分析中,检测到一种新的结构重排。在这只携带者动物的所有中期相中都发现了两条异常近端着丝粒染色体(最小的和最大的),表明存在相互易位(rcp)。进行CBA和RBA带型分析以表征易位,并应用染色体特异性BAC探针和端粒探针进行荧光原位杂交以确认细胞遗传学数据。该易位被分类为rcp(4q;12q)(q13;q25)。

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