Reliable and high-throughput mutation screening for beta-thalassemia by a single-base extension/fluorescence polarization assay.
Genet Test
; 8(3): 257-62, 2004.
Article
em En
| MEDLINE
| ID: mdl-15727248
ABSTRACT
beta-thalassemia is one of the most common inherited diseases with incidence varying between 3% and 10% in the high-prevalence regions of South China. The molecular defects are mostly due to single-nucleotide substitutions, minor insertions, and deletions in the beta-globin gene. Large-scale population genetic screening combined with prenatal diagnosis is necessary for the effective prevention of this disease. We present a single base extension (SBE) method based on homogenous fluorescence polarization (FP) for simultaneous detection of the eight most common causative mutations [CDs 41-42 (-TCTT), IVS-2-654 (C-->T), -28 (A-->G), CD17 (A-->T), CD 71/72 (+A), CD26 (G-->A), -29 (A-->G), and CD43 (G-->T)] in the beta-globin gene in a Chinese population. This assay has been validated by a blind experiment with 100 clinical samples previously characterized by reverse dot-blot and direct sequencing. The results demonstrate that this high-throughput method is simple, reliable, and cost effective. We expect this approach can be used in large-scale genetic screening for beta-thalassemia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Globinas
/
Análise Mutacional de DNA
/
Talassemia beta
/
Polarização de Fluorescência
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Evaluation_studies
/
Risk_factors_studies
/
Screening_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