Fragility in the 14q21q translocation region

Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicat...

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Main Authors: Stacy R. Denison, Asha S. Multani, Sen Pathak, Ira F. Greenbaum
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2002-01-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003
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author Stacy R. Denison
Asha S. Multani
Sen Pathak
Ira F. Greenbaum
author_facet Stacy R. Denison
Asha S. Multani
Sen Pathak
Ira F. Greenbaum
author_sort Stacy R. Denison
collection DOAJ
description Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s) in the progenitor chromosomes, or that this fragility was the result of the fusion of nonfragile progenitor chromosomes.
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spelling doaj.art-1213db2bb107447e9d5af730235c129a2022-12-21T18:54:55ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852002-01-0125327127610.1590/S1415-47572002000300003Fragility in the 14q21q translocation regionStacy R. DenisonAsha S. MultaniSen PathakIra F. GreenbaumAphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s) in the progenitor chromosomes, or that this fragility was the result of the fusion of nonfragile progenitor chromosomes.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003rob(14q21q)Robertsonian translocationfragile sitesaphidicolinheritability
spellingShingle Stacy R. Denison
Asha S. Multani
Sen Pathak
Ira F. Greenbaum
Fragility in the 14q21q translocation region
Genetics and Molecular Biology
rob(14q21q)
Robertsonian translocation
fragile sites
aphidicolin
heritability
title Fragility in the 14q21q translocation region
title_full Fragility in the 14q21q translocation region
title_fullStr Fragility in the 14q21q translocation region
title_full_unstemmed Fragility in the 14q21q translocation region
title_short Fragility in the 14q21q translocation region
title_sort fragility in the 14q21q translocation region
topic rob(14q21q)
Robertsonian translocation
fragile sites
aphidicolin
heritability
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003
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