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1.
Hemoglobin ; 43(1): 23-26, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31146650

RESUMO

ß-Thalassemia (ß-thal) is the most frequently observed hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin (Hb) polypeptide chains. Detecting thalassemia mutations are necessary for prenatal diagnosis (PND) programs leading a better quality of life for the patients, as well as a reduction in the cost of their medical care. There are more than 900 different genomic mutations of the ß-globin gene described in the human hemoglobin variant (HbVar) database. In this study, we identified a mid-intronic mutation at IVS-II-821 (A>C) (HBB: c.316-30A>C) position in the HBB gene of an Iranian proband and two of her siblings that was associated with ß-thal clinical features. Direct DNA sequence analysis was performed by mutation scanning of the ß-globin gene. Based on the observed ß-thal phenotype and bioinformatics analysis results, we concluded that this ß-globin gene mutation was associated with a mild phenotype of ß-thal through activating potential splice sites by creating exonic splicing enhancers (ESEs), exon-identity element (EIE) and exonic splicing regulatory sequences (ESRs) sites.


Assuntos
Éxons , Íntrons , Mutação , Fenótipo , Globinas beta/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Adolescente , Adulto , Alelos , Índices de Eritrócitos , Feminino , Frequência do Gene , Humanos , Irã (Geográfico) , Masculino , Adulto Jovem , Talassemia beta/sangue
2.
Hemoglobin ; 41(1): 44-46, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28475449

RESUMO

Thalassemia is the most common inherited disorder in Iran. There are approximately 800 different genomic alterations of the ß-globin gene described in the HbVar database. In this study, we identified a novel mutation in a 21-year-old woman [IVS-II-648/649 (-T); HBB: c.316-202del)] and describe its clinical implications. Two other members of this family, all with hematological and clinical features associated with ß-thalassemia (ß-thal), also carried this mutation. The molecular diagnosis of the ß-globin gene mutation was performed by direct sequencing. Based on the observed ß-thal phenotype and in silico analysis results, we concluded that this novel ß-globin gene mutation was associated with the mild phenotype of ß-thal.


Assuntos
Íntrons , Fenótipo , Deleção de Sequência , Globinas beta/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Adulto , Alelos , Pré-Escolar , Análise Mutacional de DNA , Índices de Eritrócitos , Feminino , Estudos de Associação Genética , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Talassemia beta/sangue
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