Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://hdl.handle.net/11449/224814 |
Resumo: | Background: The hemoglobinopathies are a group of hereditary hemoglobin disorders in worldwide distribution, affecting Brazilian population significantly; they are decurrent of alterations in structural genes, responsible for hemoglobin variants, and/or in regulatory genes, resulting the thalassemia. These disorders have been identified in most cases by electrophoretics procedures, and our laboratory experience points out that sometimes they do not obtain enough resolution for a right characterization of mutation. Material and method: The objective of this study was to establish a valid laboratory methodology for the characterization of hemoglobins S, C and D in homozygous or heterozygous and possible interactions, based on the allele-specific genic amplification (PCR-AE) with the use in parallel two primers that differ at their 3′ extremities and are complementary to the normal or mutated sequences. Results and discussion: The results make evident the validation of this methodology in the characterization of these mutations, once this procedure is easy to execute,to reproduce, as well as it is possible to be applied to a significative number of samples. |
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Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias betaAllele-specific genic amplification in the characterization of hemoglobins S, C, D and interactions among them and with beta thalassemiaAllele-specific PCRBeta thalassemiaHemoglobin CHemoglobin DHemoglobin SInteractionsBackground: The hemoglobinopathies are a group of hereditary hemoglobin disorders in worldwide distribution, affecting Brazilian population significantly; they are decurrent of alterations in structural genes, responsible for hemoglobin variants, and/or in regulatory genes, resulting the thalassemia. These disorders have been identified in most cases by electrophoretics procedures, and our laboratory experience points out that sometimes they do not obtain enough resolution for a right characterization of mutation. Material and method: The objective of this study was to establish a valid laboratory methodology for the characterization of hemoglobins S, C and D in homozygous or heterozygous and possible interactions, based on the allele-specific genic amplification (PCR-AE) with the use in parallel two primers that differ at their 3′ extremities and are complementary to the normal or mutated sequences. Results and discussion: The results make evident the validation of this methodology in the characterization of these mutations, once this procedure is easy to execute,to reproduce, as well as it is possible to be applied to a significative number of samples.Departamento de Ciências da Saúde Universidade Regional do Noroeste do Estado do Rio Grande do Sul (UNIJUÍ)Departamento de Análises Clínicas Faculdade de Ciencias Farmaceuticas da Universidade Estadual Paulista (FCF/UNESP) de AraraquaraFaculdade de Ciências Farmacêuticas da UNESP Disciplina de Hematologia Clínica, Caixa Postal 502, CEP 14801-902 - Araraquara-SPDepartamento de Análises Clínicas Faculdade de Ciencias Farmaceuticas da Universidade Estadual Paulista (FCF/UNESP) de AraraquaraFaculdade de Ciências Farmacêuticas da UNESP Disciplina de Hematologia Clínica, Caixa Postal 502, CEP 14801-902 - Araraquara-SPUniversidade Regional do Noroeste do Estado do Rio Grande do Sul (UNIJUÍ)Universidade Estadual Paulista (UNESP)Bertholo, Luciane CristinaMoreira, Haroldo Wilson [UNESP]2022-04-28T20:10:28Z2022-04-28T20:10:28Z2006-10-13info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article245-251Jornal Brasileiro de Patologia e Medicina Laboratorial, v. 42, n. 4, p. 245-251, 2006.1676-24441678-4774http://hdl.handle.net/11449/2248142-s2.0-33749534532Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPporJornal Brasileiro de Patologia e Medicina Laboratorialinfo:eu-repo/semantics/openAccess2024-06-21T15:19:08Zoai:repositorio.unesp.br:11449/224814Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T19:47:53.846217Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta Allele-specific genic amplification in the characterization of hemoglobins S, C, D and interactions among them and with beta thalassemia |
title |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta |
spellingShingle |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta Bertholo, Luciane Cristina Allele-specific PCR Beta thalassemia Hemoglobin C Hemoglobin D Hemoglobin S Interactions |
title_short |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta |
title_full |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta |
title_fullStr |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta |
title_full_unstemmed |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta |
title_sort |
Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interaçõ es entre elas e talassemias beta |
author |
Bertholo, Luciane Cristina |
author_facet |
Bertholo, Luciane Cristina Moreira, Haroldo Wilson [UNESP] |
author_role |
author |
author2 |
Moreira, Haroldo Wilson [UNESP] |
author2_role |
author |
dc.contributor.none.fl_str_mv |
Universidade Regional do Noroeste do Estado do Rio Grande do Sul (UNIJUÍ) Universidade Estadual Paulista (UNESP) |
dc.contributor.author.fl_str_mv |
Bertholo, Luciane Cristina Moreira, Haroldo Wilson [UNESP] |
dc.subject.por.fl_str_mv |
Allele-specific PCR Beta thalassemia Hemoglobin C Hemoglobin D Hemoglobin S Interactions |
topic |
Allele-specific PCR Beta thalassemia Hemoglobin C Hemoglobin D Hemoglobin S Interactions |
description |
Background: The hemoglobinopathies are a group of hereditary hemoglobin disorders in worldwide distribution, affecting Brazilian population significantly; they are decurrent of alterations in structural genes, responsible for hemoglobin variants, and/or in regulatory genes, resulting the thalassemia. These disorders have been identified in most cases by electrophoretics procedures, and our laboratory experience points out that sometimes they do not obtain enough resolution for a right characterization of mutation. Material and method: The objective of this study was to establish a valid laboratory methodology for the characterization of hemoglobins S, C and D in homozygous or heterozygous and possible interactions, based on the allele-specific genic amplification (PCR-AE) with the use in parallel two primers that differ at their 3′ extremities and are complementary to the normal or mutated sequences. Results and discussion: The results make evident the validation of this methodology in the characterization of these mutations, once this procedure is easy to execute,to reproduce, as well as it is possible to be applied to a significative number of samples. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-10-13 2022-04-28T20:10:28Z 2022-04-28T20:10:28Z |
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.uri.fl_str_mv |
Jornal Brasileiro de Patologia e Medicina Laboratorial, v. 42, n. 4, p. 245-251, 2006. 1676-2444 1678-4774 http://hdl.handle.net/11449/224814 2-s2.0-33749534532 |
identifier_str_mv |
Jornal Brasileiro de Patologia e Medicina Laboratorial, v. 42, n. 4, p. 245-251, 2006. 1676-2444 1678-4774 2-s2.0-33749534532 |
url |
http://hdl.handle.net/11449/224814 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Jornal Brasileiro de Patologia e Medicina Laboratorial |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
245-251 |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808129119147261952 |