Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
A rapid method for the diagnosis of the most frequent cystic fibrosis mutations in the Reunion Island is described based on a coamplification polymerase chain reaction (PCR) followed by a single digestion using MseI. We have used this strategy to detect the two most frequent mutations in this area: delta F508 (in exon 10) and Y122X (in exon 4). These two mutations account for 70% of the CF chromosomes. This diagnosis method, which is rapid, easy, direct, and inexpensive, allows adult and neonatal carrier screening in this population.
Bienvenu
T
T
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.
Bousquet
S
S
Herbulot
C
C
Cartault
F
F
Kaplan
J C
JC
Beldjord
C
C
D000328:Adult; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D005602:France / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C055927:endodeoxyribonuclease MseI; D015252:Deoxyribonucleases, Type II Site-Specific