Ring chromosome instability evaluation in six patients with autosomal rings
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/32058 http://dx.doi.org/10.4238/vol9-1gmr707 |
Resumo: | Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48-and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. the cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype. |
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Sodre, Claudete Palmer [UNIFESP]Guilherme, Roberta dos Santos [UNIFESP]Meloni, Vera de Freitas Ayres [UNIFESP]Brunoni, Decio [UNIFESP]Juliano, YaraAndrade, Joyce Anderson Duffles [UNIFESP]Belangero, Síntia Iole Nogueira [UNIFESP]Christofolini, Denise Maria [UNIFESP]Kulikowski, Leslie Domenici [UNIFESP]Melaragno, Maria Isabel [UNIFESP]Universidade Federal de São Paulo (UNIFESP)Universidade de São Paulo (USP)Univ Santo Amaro2016-01-24T13:59:03Z2016-01-24T13:59:03Z2010-01-01Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 9, n. 1, p. 134-143, 2010.1676-5680http://repositorio.unifesp.br/handle/11600/32058http://dx.doi.org/10.4238/vol9-1gmr70710.4238/vol9-1gmr707WOS:000277326200008Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48-and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. the cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.Universidade Federal de São Paulo, Dept Morfol & Genet, São Paulo, BrazilUniv São Paulo, Dept Patol, LIM 03, São Paulo, BrazilUniv Santo Amaro, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Morfol & Genet, São Paulo, BrazilWeb of Science134-143engFunpec-editoraGenetics and Molecular ResearchRing chromosomeChromosome instabilitySister chromatid differentiationRing chromosome instability evaluation in six patients with autosomal ringsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/320582022-02-18 12:08:04.291metadata only accessoai:repositorio.unifesp.br:11600/32058Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652022-02-18T15:08:04Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Ring chromosome instability evaluation in six patients with autosomal rings |
title |
Ring chromosome instability evaluation in six patients with autosomal rings |
spellingShingle |
Ring chromosome instability evaluation in six patients with autosomal rings Sodre, Claudete Palmer [UNIFESP] Ring chromosome Chromosome instability Sister chromatid differentiation |
title_short |
Ring chromosome instability evaluation in six patients with autosomal rings |
title_full |
Ring chromosome instability evaluation in six patients with autosomal rings |
title_fullStr |
Ring chromosome instability evaluation in six patients with autosomal rings |
title_full_unstemmed |
Ring chromosome instability evaluation in six patients with autosomal rings |
title_sort |
Ring chromosome instability evaluation in six patients with autosomal rings |
author |
Sodre, Claudete Palmer [UNIFESP] |
author_facet |
Sodre, Claudete Palmer [UNIFESP] Guilherme, Roberta dos Santos [UNIFESP] Meloni, Vera de Freitas Ayres [UNIFESP] Brunoni, Decio [UNIFESP] Juliano, Yara Andrade, Joyce Anderson Duffles [UNIFESP] Belangero, Síntia Iole Nogueira [UNIFESP] Christofolini, Denise Maria [UNIFESP] Kulikowski, Leslie Domenici [UNIFESP] Melaragno, Maria Isabel [UNIFESP] |
author_role |
author |
author2 |
Guilherme, Roberta dos Santos [UNIFESP] Meloni, Vera de Freitas Ayres [UNIFESP] Brunoni, Decio [UNIFESP] Juliano, Yara Andrade, Joyce Anderson Duffles [UNIFESP] Belangero, Síntia Iole Nogueira [UNIFESP] Christofolini, Denise Maria [UNIFESP] Kulikowski, Leslie Domenici [UNIFESP] Melaragno, Maria Isabel [UNIFESP] |
author2_role |
author author author author author author author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) Universidade de São Paulo (USP) Univ Santo Amaro |
dc.contributor.author.fl_str_mv |
Sodre, Claudete Palmer [UNIFESP] Guilherme, Roberta dos Santos [UNIFESP] Meloni, Vera de Freitas Ayres [UNIFESP] Brunoni, Decio [UNIFESP] Juliano, Yara Andrade, Joyce Anderson Duffles [UNIFESP] Belangero, Síntia Iole Nogueira [UNIFESP] Christofolini, Denise Maria [UNIFESP] Kulikowski, Leslie Domenici [UNIFESP] Melaragno, Maria Isabel [UNIFESP] |
dc.subject.eng.fl_str_mv |
Ring chromosome Chromosome instability Sister chromatid differentiation |
topic |
Ring chromosome Chromosome instability Sister chromatid differentiation |
description |
Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48-and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. the cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype. |
publishDate |
2010 |
dc.date.issued.fl_str_mv |
2010-01-01 |
dc.date.accessioned.fl_str_mv |
2016-01-24T13:59:03Z |
dc.date.available.fl_str_mv |
2016-01-24T13:59:03Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 9, n. 1, p. 134-143, 2010. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/32058 http://dx.doi.org/10.4238/vol9-1gmr707 |
dc.identifier.issn.none.fl_str_mv |
1676-5680 |
dc.identifier.doi.none.fl_str_mv |
10.4238/vol9-1gmr707 |
dc.identifier.wos.none.fl_str_mv |
WOS:000277326200008 |
identifier_str_mv |
Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 9, n. 1, p. 134-143, 2010. 1676-5680 10.4238/vol9-1gmr707 WOS:000277326200008 |
url |
http://repositorio.unifesp.br/handle/11600/32058 http://dx.doi.org/10.4238/vol9-1gmr707 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Genetics and Molecular Research |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
134-143 |
dc.publisher.none.fl_str_mv |
Funpec-editora |
publisher.none.fl_str_mv |
Funpec-editora |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
_version_ |
1802764112430628864 |