Rapid detection of common southeast Asian beta-thalassemia mutations by nonisotopic multiplex PCR-SSCP analysis.
Genet Test
; 8(2): 104-8, 2004.
Article
em En
| MEDLINE
| ID: mdl-15345105
ABSTRACT
This report describes the detection of seven beta-thalassemia mutations common in Southeast Asia by amplifying three short PCR fragments in two separate tubes, followed by single-strand conformation polymorphism (SSCP) analysis in single lanes. These mutations are -28 A --> G, codon 17 A --> T, IVS1 + 5 G --> C, codon 41/42 -CTTT, codon 43 G --> T, codon 71/72 + A, and IVS2 + 654 C --> T, and account for 70% to over 95% of the cases in this region. This rapid nonisotopic method was also found capable of detecting other mutations within the amplified fragments. It is simple, rapid, and cheap, and thus suitable for carrier screening and prenatal diagnosis in Southeast Asia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Reação em Cadeia da Polimerase
/
Talassemia beta
/
Polimorfismo Conformacional de Fita Simples
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Genet Test
Assunto da revista:
GENETICA
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
China