[Direct diagnosis of predominant mutation delta F508 associated with the mucoviscidosis gene].
The cystic fibrosis locus was mapped on the long arm of the chromosome 7 in 1985. It has recently been cloned and a three base pair deletion has been recognized as the mutation associated with the majority of CF chromosomes (delta F508). CF haplotypes previously defined with tightly associated DNA markers were analysed using PCR (Polymerase Chain Reaction) and allele specific oligonucleotides to determine the presence or absence of this mutation. This mutation was found on 80% of our CF chromosomes and associated predominantly with the B haplotypes. The detection of this mutation is now a major improvement for carrier detection and prenatal diagnosis of the disease.
Férec
C
C
Centre Départemental de Transfusion Sanguine, Brest.
Guillermit
H
H
Verlingue
C
C
Parent
P
P
Puissant
H
H
Jehanne
M
M
Saleun
J P
JP
D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005817:Genetic Counseling / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D009154:Mutation; D011296:Prenatal Diagnosis / Q000379:methods
Diagnostic direct de la mutation majoritaire delta F508 associée au gène de la mucoviscidose.