Detection of common deletions and mutations causing α-thalassemia in Southeast Asians and Southern Chinese with denaturing high performance liquid chromatography / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 670-674, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-295557
ABSTRACT
<p><b>OBJECTIVE</b>To establish a comprehensive and simple assay using denaturing high performance liquid chromatography (DHPLC) for the diagnosis of most common mutations and deletions of α-thalassemia gene in Southeast Asians and Southern Chinese.</p><p><b>METHODS</b>This assay has included a duplex polymerase chain reaction (PCR) followed by DHPLC analysis. An improved PCR was also performed followed by DHPLC analysis. With this assay, a blinded study of 160 samples was screened for three common mutations and three common deletions.</p><p><b>RESULTS</b>The duplex PCR-DHPLC combined with the improved PCR-DHPLC analysis has detected all mutations and the wild-type allele. The results were consistent with those by the original methods.</p><p><b>CONCLUSION</b>This molecular assay may be used for the diagnosis of α-thalassemia patients from this geographical region. The method is accurate, rapid, semi-automatic and cost-effective, which makes it suitable for large-scale screening.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Cromatografia Líquida de Alta Pressão
/
Talassemia alfa
/
Ordem dos Genes
/
Diagnóstico
/
Alfa-Globinas
/
Genética
/
Genótipo
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Artigo
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