Início
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Arquivos
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v. 1 n. 2 (2020): Edição Especial 2: Anais do I Congresso Brasileiro de Saúde On-line
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Anais de Evento
CARACTERIZAÇÃO MOLECULAR DAS TALASSEMIAS ALFA E BETA NO ESTADO DO PARÁ E AVALIAÇÃO DA ASSOCIAÇÃO DE GENES MODIFICADORES NA GRAVIDADE CLÍNICA DA TALASSEMIA BETA
Autores
Adriane Maria Bezerra da Silva
Patrícia Jeanne de Souza Mendonça Mattos
Aylla Nubia Lima Martins Silva
Greice de Lemos Cardoso Costa
João Farias Guerreiro
Palavras-chave:
genes modificadores, manifestações clínicas, talassemia alfa, talassemia beta
Resumo
Introdução: Estudos sobre talassemias são importantes, pois acredita-se que haja subnotificação de casos brasileiros. A maioria dos indivíduos com talassemia-α apresenta fenótipos clínicos muito leves e podem não ser notados durante a vida, já a talassemia-β menor é frequentemente mal diagnosticada e apresenta manifestações clínicas muito discretas. Vários fatores são conhecidos por dificultar a interpretação dos resultados interferindo no diagnóstico laboratorial das talassemias, dentre eles os que estão associados ao aumento de HbA2, como mutações no gene KLF1. Deve-se ressaltar que o KLF1 é um ativador da expressão de BCL11A que, por sua vez, suprime a expressão de HBG2/HBG1, e que o fator de transcrição MYB ativa o KLF1. Objetivo: Caracterizar molecularmente as talassemias alfa e beta nos pacientes atendidos no HEMOPA e avaliar os efeitos de genes modificadores na gravidade das manifestações clínicas da talassemia beta. Material e Métodos: As amostras são constituídas pelo sangue periférico de pacientes do HEMOPA com suspeita de talassemia. O critério de inclusão para participação no estudo foi: pacientes do HEMOPA que apresentaram índices hematimétricos característicos de hipocromia e microcitose, sem sideropenia. Os níveis de HbF e HbA2 foram dosados pelo método de HPLC, e está sendo realizado a extração de DNA para estas amostras. A investigação molecular das mutações para talassemias será realizada da seguinte forma: para talassemia β, o sequenciamento direto do gene da globina beta, analisando-se as 10 principais mutações que causam essa síndrome; e para a talassemia α, a técnica de Amplificação de Múltiplas Sondas Dependente de Ligação (MLPA). Será realizada a genotipagem de polimorfismos escolhidos, localizados na região promotora do gene HBG2, na região intergênica HBS1L-MYB, no gene BCL11A e no gene KLF1. Resultados: Este trabalho ainda está sendo desenvolvido. As análise de dados serão executadas por meio do programa S.PS.S., no qual os níveis de significância estabelecidos para os testes serão de 5% (p<0,05). Conclusão: Após a obtenção dos resultados será possível estabelecer um painel de modificadores genéticos para informar o prognóstico e orientar o direcionamento para o tratamento da talassemia-β, além de atualizar a caracterização das bases moleculares da talassemia-β e –α na Região Amazônica.
Como Citar
Bezerra da Silva, A. M. ., de Souza Mendonça Mattos, P. J. ., Lima Martins Silva, A. N. ., de Lemos Cardoso Costa, G. ., & Farias Guerreiro, J. . (2020). CARACTERIZAÇÃO MOLECULAR DAS TALASSEMIAS ALFA E BETA NO ESTADO DO PARÁ E AVALIAÇÃO DA ASSOCIAÇÃO DE GENES MODIFICADORES NA GRAVIDADE CLÍNICA DA TALASSEMIA BETA. Revista Multidisciplinar Em Saúde , 1 (2), 59. Recuperado de https://editoraime.com.br/revistas/rems/article/view/246
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HookRegistry.call(Templates::Article::Footer::PageFooter, Array[3]) % line 1267, file: PKPTemplateManager.inc.php
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PKPPageRouter.route(Object:Request) % line 143, file: Dispatcher.inc.php
Dispatcher.dispatch(Object:Request) % line 281, file: PKPApplication.inc.php
PKPApplication.execute() % line 68, file: index.php
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DAO.retrieveCached(SELECT o.submission_id, MAX(s.context_id) AS journal_id, MAX(i.date_published) AS i_pub, MAX(p.date_published) A..., Array[2], 3600) % line 91, file: ArticleSearchDAO.inc.php
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SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[4], , null, null, 500, 1) % line 194, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedPhraseResults(Object:Journal, Array[4], null, null, null, 500, 1) % line 146, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[3], null, null, null, 500, 1) % line 132, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedArray(Object:Journal, Array[1], null, null) % line 263, file: SubmissionSearch.inc.php
SubmissionSearch.retrieveResults(Object:Request, Object:Journal, Array[1], null, null, null, Object:DBResultRange, Array[1]) % line 92, file: RecommendBySimilarityPlugin.inc.php
RecommendBySimilarityPlugin.callbackTemplateArticlePageFooter(Templates::Article::Footer::PageFooter, Array[3]) % line 107, file: HookRegistry.inc.php
HookRegistry.call(Templates::Article::Footer::PageFooter, Array[3]) % line 1267, file: PKPTemplateManager.inc.php
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PKPTemplateManager.display(frontend/pages/article.tpl) % line 292, file: ArticleHandler.inc.php
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PKPPageRouter.route(Object:Request) % line 143, file: Dispatcher.inc.php
Dispatcher.dispatch(Object:Request) % line 281, file: PKPApplication.inc.php
PKPApplication.execute() % line 68, file: index.php
ADOConnection.CacheExecute(3600, SELECT o.submission_id, MAX(s.context_id) AS journal_id, MAX(i.date_published) AS i_pub, MAX(p.date_published) A..., Array[2]) % line 132, file: DAO.inc.php
DAO.retrieveCached(SELECT o.submission_id, MAX(s.context_id) AS journal_id, MAX(i.date_published) AS i_pub, MAX(p.date_published) A..., Array[2], 3600) % line 91, file: ArticleSearchDAO.inc.php
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SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[4], , null, null, 500, 1) % line 194, file: SubmissionSearch.inc.php
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SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[3], null, null, null, 500, 1) % line 132, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedArray(Object:Journal, Array[1], null, null) % line 263, file: SubmissionSearch.inc.php
SubmissionSearch.retrieveResults(Object:Request, Object:Journal, Array[1], null, null, null, Object:DBResultRange, Array[1]) % line 92, file: RecommendBySimilarityPlugin.inc.php
RecommendBySimilarityPlugin.callbackTemplateArticlePageFooter(Templates::Article::Footer::PageFooter, Array[3]) % line 107, file: HookRegistry.inc.php
HookRegistry.call(Templates::Article::Footer::PageFooter, Array[3]) % line 1267, file: PKPTemplateManager.inc.php
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PKPTemplateManager.display(frontend/pages/article.tpl) % line 292, file: ArticleHandler.inc.php
ArticleHandler.view(Array[1], Object:Request) % line 391, file: PKPRouter.inc.php
PKPRouter._authorizeInitializeAndCallRequest(Array[2], Object:Request, Array[1], false) % line 231, file: PKPPageRouter.inc.php
PKPPageRouter.route(Object:Request) % line 143, file: Dispatcher.inc.php
Dispatcher.dispatch(Object:Request) % line 281, file: PKPApplication.inc.php
PKPApplication.execute() % line 68, file: index.php
ADOConnection.CacheExecute(3600, SELECT o.submission_id, MAX(s.context_id) AS journal_id, MAX(i.date_published) AS i_pub, MAX(p.date_published) A..., Array[2]) % line 132, file: DAO.inc.php
DAO.retrieveCached(SELECT o.submission_id, MAX(s.context_id) AS journal_id, MAX(i.date_published) AS i_pub, MAX(p.date_published) A..., Array[2], 3600) % line 91, file: ArticleSearchDAO.inc.php
ArticleSearchDAO.getPhraseResults(Object:Journal, Array[1], null, null, , 500, 1) % line 201, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedPhraseResults(Object:Journal, Array[1], , null, null, 500, 1) % line 146, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[4], , null, null, 500, 1) % line 194, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedPhraseResults(Object:Journal, Array[4], null, null, null, 500, 1) % line 146, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[3], null, null, null, 500, 1) % line 132, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedArray(Object:Journal, Array[1], null, null) % line 263, file: SubmissionSearch.inc.php
SubmissionSearch.retrieveResults(Object:Request, Object:Journal, Array[1], null, null, null, Object:DBResultRange, Array[1]) % line 92, file: RecommendBySimilarityPlugin.inc.php
RecommendBySimilarityPlugin.callbackTemplateArticlePageFooter(Templates::Article::Footer::PageFooter, Array[3]) % line 107, file: HookRegistry.inc.php
HookRegistry.call(Templates::Article::Footer::PageFooter, Array[3]) % line 1267, file: PKPTemplateManager.inc.php
PKPTemplateManager.smartyCallHook(Array[1], Object:Smarty_Internal_Template) % line 43, file: 42362804174f266c598cdb32c3208fc745b92101^1c372c95cd85572e0fbc9a53d0323a0b229cfc78_0.app.frontendpagesarticle.tpl.php
content_6781613650b432_13896783(Object:Smarty_Internal_Template) % line 123, file: smarty_template_resource_base.php
Smarty_Template_Resource_Base.getRenderedTemplateCode(Object:Smarty_Internal_Template) % line 114, file: smarty_template_compiled.php
Smarty_Template_Compiled.render(Object:Smarty_Internal_Template) % line 216, file: smarty_internal_template.php
Smarty_Internal_Template.render(false, 1) % line 232, file: smarty_internal_templatebase.php
Smarty_Internal_TemplateBase._execute(Object:Smarty_Internal_Template, null, 42362804174f266c598cdb32c3208fc745b92101, null, 1) % line 134, file: smarty_internal_templatebase.php
Smarty_Internal_TemplateBase.display(frontend/pages/article.tpl, null, 42362804174f266c598cdb32c3208fc745b92101, null) % line 924, file: PKPTemplateManager.inc.php
PKPTemplateManager.display(frontend/pages/article.tpl) % line 292, file: ArticleHandler.inc.php
ArticleHandler.view(Array[1], Object:Request) % line 391, file: PKPRouter.inc.php
PKPRouter._authorizeInitializeAndCallRequest(Array[2], Object:Request, Array[1], false) % line 231, file: PKPPageRouter.inc.php
PKPPageRouter.route(Object:Request) % line 143, file: Dispatcher.inc.php
Dispatcher.dispatch(Object:Request) % line 281, file: PKPApplication.inc.php
PKPApplication.execute() % line 68, file: index.php
ADOConnection.CacheExecute(3600, SELECT o.submission_id, MAX(s.context_id) AS journal_id, MAX(i.date_published) AS i_pub, MAX(p.date_published) A..., Array[2]) % line 132, file: DAO.inc.php
DAO.retrieveCached(SELECT o.submission_id, MAX(s.context_id) AS journal_id, MAX(i.date_published) AS i_pub, MAX(p.date_published) A..., Array[2], 3600) % line 91, file: ArticleSearchDAO.inc.php
ArticleSearchDAO.getPhraseResults(Object:Journal, Array[1], null, null, , 500, 1) % line 201, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedPhraseResults(Object:Journal, Array[1], , null, null, 500, 1) % line 146, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[4], , null, null, 500, 1) % line 194, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedPhraseResults(Object:Journal, Array[4], null, null, null, 500, 1) % line 146, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedKeywordResults(Object:Journal, Array[3], null, null, null, 500, 1) % line 132, file: SubmissionSearch.inc.php
SubmissionSearch._getMergedArray(Object:Journal, Array[1], null, null) % line 263, file: SubmissionSearch.inc.php
SubmissionSearch.retrieveResults(Object:Request, Object:Journal, Array[1], null, null, null, Object:DBResultRange, Array[1]) % line 92, file: RecommendBySimilarityPlugin.inc.php
RecommendBySimilarityPlugin.callbackTemplateArticlePageFooter(Templates::Article::Footer::PageFooter, Array[3]) % line 107, file: HookRegistry.inc.php
HookRegistry.call(Templates::Article::Footer::PageFooter, Array[3]) % line 1267, file: PKPTemplateManager.inc.php
PKPTemplateManager.smartyCallHook(Array[1], Object:Smarty_Internal_Template) % line 43, file: 42362804174f266c598cdb32c3208fc745b92101^1c372c95cd85572e0fbc9a53d0323a0b229cfc78_0.app.frontendpagesarticle.tpl.php
content_6781613650b432_13896783(Object:Smarty_Internal_Template) % line 123, file: smarty_template_resource_base.php
Smarty_Template_Resource_Base.getRenderedTemplateCode(Object:Smarty_Internal_Template) % line 114, file: smarty_template_compiled.php
Smarty_Template_Compiled.render(Object:Smarty_Internal_Template) % line 216, file: smarty_internal_template.php
Smarty_Internal_Template.render(false, 1) % line 232, file: smarty_internal_templatebase.php
Smarty_Internal_TemplateBase._execute(Object:Smarty_Internal_Template, null, 42362804174f266c598cdb32c3208fc745b92101, null, 1) % line 134, file: smarty_internal_templatebase.php
Smarty_Internal_TemplateBase.display(frontend/pages/article.tpl, null, 42362804174f266c598cdb32c3208fc745b92101, null) % line 924, file: PKPTemplateManager.inc.php
PKPTemplateManager.display(frontend/pages/article.tpl) % line 292, file: ArticleHandler.inc.php
ArticleHandler.view(Array[1], Object:Request) % line 391, file: PKPRouter.inc.php
PKPRouter._authorizeInitializeAndCallRequest(Array[2], Object:Request, Array[1], false) % line 231, file: PKPPageRouter.inc.php
PKPPageRouter.route(Object:Request) % line 143, file: Dispatcher.inc.php
Dispatcher.dispatch(Object:Request) % line 281, file: PKPApplication.inc.php
PKPApplication.execute() % line 68, file: index.php