Diagnosis of Lepore hemoglobinopathy with DNA analysis.

Detalhes bibliográficos
Autor(a) principal: Lavinha, J
Data de Publicação: 1992
Outros Autores: Sampaio, V, da Mata, E
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3264
Resumo: We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it possible to detect a deletion of approximately 7kb which typically characterizes the delta beta Boston gene. The impact of using such methods in the prenatal diagnosis of major haemoglobinopathies is discussed.
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spelling Diagnosis of Lepore hemoglobinopathy with DNA analysis.Diagnóstico da hemoglobinopatia de Lepore por análise do DNA.We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it possible to detect a deletion of approximately 7kb which typically characterizes the delta beta Boston gene. The impact of using such methods in the prenatal diagnosis of major haemoglobinopathies is discussed.We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it possible to detect a deletion of approximately 7kb which typically characterizes the delta beta Boston gene. The impact of using such methods in the prenatal diagnosis of major haemoglobinopathies is discussed.Ordem dos Médicos1992-07-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3264oai:ojs.www.actamedicaportuguesa.com:article/3264Acta Médica Portuguesa; Vol. 5 No. 7 (1992): Julho; 379-81Acta Médica Portuguesa; Vol. 5 N.º 7 (1992): Julho; 379-811646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3264https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3264/2603Lavinha, JSampaio, Vda Mata, Einfo:eu-repo/semantics/openAccess2022-12-20T11:02:00Zoai:ojs.www.actamedicaportuguesa.com:article/3264Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:18:16.294912Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Diagnosis of Lepore hemoglobinopathy with DNA analysis.
Diagnóstico da hemoglobinopatia de Lepore por análise do DNA.
title Diagnosis of Lepore hemoglobinopathy with DNA analysis.
spellingShingle Diagnosis of Lepore hemoglobinopathy with DNA analysis.
Lavinha, J
title_short Diagnosis of Lepore hemoglobinopathy with DNA analysis.
title_full Diagnosis of Lepore hemoglobinopathy with DNA analysis.
title_fullStr Diagnosis of Lepore hemoglobinopathy with DNA analysis.
title_full_unstemmed Diagnosis of Lepore hemoglobinopathy with DNA analysis.
title_sort Diagnosis of Lepore hemoglobinopathy with DNA analysis.
author Lavinha, J
author_facet Lavinha, J
Sampaio, V
da Mata, E
author_role author
author2 Sampaio, V
da Mata, E
author2_role author
author
dc.contributor.author.fl_str_mv Lavinha, J
Sampaio, V
da Mata, E
description We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it possible to detect a deletion of approximately 7kb which typically characterizes the delta beta Boston gene. The impact of using such methods in the prenatal diagnosis of major haemoglobinopathies is discussed.
publishDate 1992
dc.date.none.fl_str_mv 1992-07-31
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dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3264
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dc.relation.none.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3264
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dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv Acta Médica Portuguesa; Vol. 5 No. 7 (1992): Julho; 379-81
Acta Médica Portuguesa; Vol. 5 N.º 7 (1992): Julho; 379-81
1646-0758
0870-399X
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