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Accurate and rapid prenatal diagnosis of beta-thalassemia by a multiplex primer extension and denaturing high-performance liquid chromatography technique / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 600-603, 2004.
Artigo em Chinês | WPRIM | ID: wpr-321186
ABSTRACT
<p><b>OBJECTIVE</b>To develop a primer-extension in combination with denaturing high-performance liquid chromatography (PE-DHPLC)-based assay for prenatal diagnosis of the five most common beta-thalassemia mutations in Chinese.</p><p><b>METHODS</b>The human beta-globin gene fragment was amplified by PCR, followed by a multiple PE reaction specific for each five mutations. Then the PE product mixtures were separated for genotyping of beta-globin gene mutations using fully-denaturing DHPLC analysis.</p><p><b>RESULTS</b>In a blind study, prenatal diagnosis was performed on thirty-six at-risk families for beta-thalassemia major. Reverse dot blot (RDB) analysis was used to validate each result, showing an accuracy rate of 100% for PE-DHPLC in a total of 108 samples tested. Overall, by PE-DHPLC analysis, the authors could identify the genotypes involving the five mutations and normal alleles corresponding to 94.4% (102/108) and actually make final decision for prenatal diagnosis covering 97.2% (35/36).</p><p><b>CONCLUSION</b>The PE-DHPLC protocol can be a simple, rapid, and highly accurate assay in the prenatal detection of common beta-thalassemia mutations.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Globinas / Análise Mutacional de DNA / Dados de Sequência Molecular / Sequência de Bases / Cromatografia Líquida de Alta Pressão / Mutação Puntual / Talassemia beta / Primers do DNA / Diagnóstico Tipo de estudo: Ensaio Clínico Controlado / Estudo diagnóstico / Guia de Prática Clínica Limite: Feminino / Humanos / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2004 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / Globinas / Análise Mutacional de DNA / Dados de Sequência Molecular / Sequência de Bases / Cromatografia Líquida de Alta Pressão / Mutação Puntual / Talassemia beta / Primers do DNA / Diagnóstico Tipo de estudo: Ensaio Clínico Controlado / Estudo diagnóstico / Guia de Prática Clínica Limite: Feminino / Humanos / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2004 Tipo de documento: Artigo