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.
Article
em Zh
| WPRIM
| ID: wpr-295557
Biblioteca responsável:
WPRO
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:
1
Índice:
WPRIM
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:
Diagnostic_studies
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Article