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Genet Mol Res ; 12(3): 2409-15, 2013 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-23479149

RESUMO

Beta-thalassemia is a life-threatening inherited blood disorder. Rapid characterization of ß-globin gene mutations is necessary because of the high frequency of Malaysian ß-thalassemia carriers. A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm ß-globin gene mutations. In this study, primers and probes were designed to specifically identify 8 common ß-thalassemia mutations in the Malaysian Malay and Chinese ethnic groups using the Primer Express software. "Blind tests" using DNA samples from healthy individuals and ß-thalassemia patients with different genotypes were performed to determine the specificity and sensitivity of this newly designed assay. Our results showed 100% sensitivity and specificity for this novel assay. In conclusion, the TaqMan genotyping assay is a straightforward assay that allows detection of ß-globin gene mutations in less than 40 min. The simplicity and reproducibility of the TaqMan genotyping assay permit its use in laboratories as a rapid and cost-effective diagnostic tool for confirmation of common ß-thalassemia mutations in Malaysia.


Assuntos
Povo Asiático/genética , Técnicas de Genotipagem/métodos , Mutação , Talassemia beta/genética , Povo Asiático/etnologia , Estudos de Casos e Controles , Haptoglobinas/genética , Humanos , Malásia , Reação em Cadeia da Polimerase/métodos , Sensibilidade e Especificidade , Método Simples-Cego , Talassemia beta/etnologia
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