De novo Reciprocal Translocation t(5;6)(q13;q34) in Cattle: Cytogenetic and Molecular Characterization

被引：10

作者：

De Lorenzi, L. ^{[1
]}

Rossi, E. ^{[2
]}

Gimelli, S. ^{[3
]}

Parma, P. ^{[1
]}

机构：

[1] Univ Milan, Dept Agr & Environm Sci, IT-20133 Milan, Italy

[2] Univ Pavia, Dept Mol Med, I-27100 Pavia, Italy

[3] Univ Hosp Geneva, Dept Genet & Lab Med, Geneva, Switzerland

来源：

CYTOGENETIC AND GENOME RESEARCH | 2014年 / 142卷 / 02期

关键词：

Cattle; CGH array; FISH; Reciprocal translocation; MUTATIONS; REGULATOR; E2F7;

D O I：

10.1159/000356209

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The cytogenetic analysis of a phenotypically normal bull from the Marchigiana breed revealed the presence of an abnormal karyotype due to the presence of a very long chromosome. This finding, identified in all the metaphases observed, was associated with the 2n = 60, XY karyotype, suggesting the presence of a reciprocal translocation. RBG-banding analyses identified a de novo reciprocal translocation involving BTA5 and BTA6, t(5;6)(q13;q34), while FISH analyses using cattle-specific BACs as probes enabled the confirmation and narrowed down the breakpoint regions. Array-CGH analysis also established that neither deletions nor duplications were present in the regions including the breakpoints, nor were they present elsewhere in the genome, confirming the balanced state of the translocation. (C) 2013 S. Karger AG, Basel

引用

页码：95 / 100

页数：6

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