A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia.
Methods Mol Biol
; 444: 169-82, 2008.
Article
em En
| MEDLINE
| ID: mdl-18425480
ABSTRACT
The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then it is hybridized with fluorescent-tagged DNA probes specific for the mutant and wild-type sequences. The presence or absence of the mutation is detected by the fluorescence signal. Electronic stringency provides quality control for the hybridization process and ensures that any bound pairs of DNA are truly complementary; the microchip can be easily customized by the end user, allowing for assembly of specific probes onto the microchip to perform individualized analyses. Assays for 10 frequent mutations in the beta-globin gene causing beta-thalassemia and sickle cell anemia are presented that can be applied, in turn, to population screening or family study and prenatal diagnosis in single cases.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Globinas
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Análise Mutacional de DNA
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Testes Genéticos
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Talassemia beta
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Análise de Sequência com Séries de Oligonucleotídeos
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Anemia Falciforme
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Methods Mol Biol
Ano de publicação:
2008
Tipo de documento:
Article