Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions.
Mol Biol Med
; 7(4): 359-64, 1990 Aug.
Article
em En
| MEDLINE
| ID: mdl-1978221
ABSTRACT
Cloning of the cystic fibrosis gene and the identification of the predominant disease-causing mutation did not only help in the understanding of this frequent disease, but was immediately followed by applications in direct gene diagnosis. We describe a method for the detection of the so-called delta F508 deletion, which accounts for 70% of the mutations a polymerase chain reaction with two different combinations of oligonucleotide primers, which discriminate between mutant and wild-type alleles. This allele-specific amplification provides a rapid, non-radioactive and very reliable method for direct genotyping. Establishment of the procedure and its application in diagnosis are described. We further report preliminary data on the frequency of this mutation in German patients and its association with restriction fragment length polymorphism haplotypes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sondas de Oligonucleotídeos
/
Reação em Cadeia da Polimerase
/
Deleção Cromossômica
/
Fibrose Cística
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
1990
Tipo de documento:
Article