Fragility in the 14q21q translocation region

Detalhes bibliográficos
Autor(a) principal: Denison,Stacy R.
Data de Publicação: 2002
Outros Autores: Multani,Asha S., Pathak,Sen, Greenbaum,Ira F.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003
Resumo: 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 Fragility in the 14q21q translocation regionrob(14q21q)Robertsonian translocationfragile sitesaphidicolinheritabilityAphidicolin (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.Sociedade Brasileira de Genética2002-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003Genetics and Molecular Biology v.25 n.3 2002reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572002000300003info:eu-repo/semantics/openAccessDenison,Stacy R.Multani,Asha S.Pathak,SenGreenbaum,Ira F.eng2002-12-06T00:00:00Zoai:scielo:S1415-47572002000300003Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2002-12-06T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Fragility in the 14q21q translocation region
title Fragility in the 14q21q translocation region
spellingShingle Fragility in the 14q21q translocation region
Denison,Stacy R.
rob(14q21q)
Robertsonian translocation
fragile sites
aphidicolin
heritability
title_short 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_sort Fragility in the 14q21q translocation region
author Denison,Stacy R.
author_facet Denison,Stacy R.
Multani,Asha S.
Pathak,Sen
Greenbaum,Ira F.
author_role author
author2 Multani,Asha S.
Pathak,Sen
Greenbaum,Ira F.
author2_role author
author
author
dc.contributor.author.fl_str_mv Denison,Stacy R.
Multani,Asha S.
Pathak,Sen
Greenbaum,Ira F.
dc.subject.por.fl_str_mv rob(14q21q)
Robertsonian translocation
fragile sites
aphidicolin
heritability
topic rob(14q21q)
Robertsonian translocation
fragile sites
aphidicolin
heritability
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.
publishDate 2002
dc.date.none.fl_str_mv 2002-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572002000300003
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.25 n.3 2002
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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