Carina De Fátima Rodrigues *

Autora invitada por SIIC

VARIANTES NO GENE UGT1A1 QUE CONDICIONAM OS NÍVEIS DE BILIRRUBINA

Neste estudo verificou-se que a variante do gene UGT1A1 c. −3279T>G, está também associada a hiperbilirrubinémia, no entanto a variante c.−41_−40dupTA parece ter mais impacto na actividade da enzima. Nos doentes com síndroma de Gilbert foram detetadas na região codificante duas variantes já descritas na literatura e 3 novas alterações, em heterozigotia, classificadas como deletérias pela análise in sílico.

*Carina De Fátima Rodrigues
describe para SIIC los aspectos relevantes de su trabajo
IMPACT OF UGT1A1 GENE VARIANTS ON TOTAL BILIRUBIN LEVELS IN GILBERT SYNDROME PATIENTS AND IN HEALTHY SUBJECTS
Institución principal de la investigación
*Instituto Politécnico de Bragança, Bragança, Portugal
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Otros artículos de Carina De Fátima Rodrigues

C. Rodrigues, E. Costa, E. Vieira, et al., in press. Bilirubin is mainly dependent on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index, Am. J. Med. Sci.Am J Med Sci. 2012(2):114-8.

Para comunicarse con Carina De Fátima Rodrigues mencionar a SIIC como referencia:
carina@ipb.pt

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Acerca del trabajo completo

VARIANTES NO GENE UGT1A1 QUE CONDICIONAM OS NÍVEIS DE BILIRRUBINA

Título original en castellano
IMPORTÂNCIA DAS VARIANTES DO GENE UGT1A1 NOS NIVEIS TOTAIS DE BILIRRUBINA EM DOENTES COM SINDROMA DE GILBERT E INDIVIDUOS SAUDAVEIS

Autores
Carina De Fátima Rodrigues¹, Emília Vieira², Rosário Santos³, João Carvalho⁴, Alice Santos-Silva⁵, Elísio Costa⁶, Elsa Bronze-Da-rocha⁷
1 Professora, Instituto Politécnico de Bragança, Bragança, Portugal, Assistente
2 Técnica de Diagnóstico e Terap, Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães Insarj, Porto, Portugal, Técnica
3 Genéticista, Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães Insarj, Porto, Portugal, Chefe da Unidade
4 Médico, Serviço de Gastrenterologia, Centro Hospitalar de Vila Nova de Gaia, Portugal, Médico Especialista
5 Professora, Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia da Universidade Do Porto, Portugal e Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal, Professor Associado
6 Professor, Instituto de Ciências da Saúde da Universidade Católica Do Porto, Portugal, Professor Auxiliar
7 Professora, Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal e Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal e Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal, Professor Auxiliar

Acceso a la fuente original
Blood Cells, Molecules & Diseases
http://www.elsevier.com/wps/find/journaldescription.cws_home/622796/description#description

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