Detection of the cystic fibrosis delta-F508 mutation at autopsy by site-directed mutagenesis.
In Caucasian populations cystic fibrosis (CF) is the most common autosomal recessive disorder. CF was previously considered rare in Mexico; however, the reported frequency is about 1% in autopsies. This discrepancy appears to be due to the inability to diagnose the illness during life. It is now known that in developing countries a great number of affected children die without the benefit of CF diagnosis and appropriate treatment. In this study we have used the PCR-mediated site-directed mutagenesis technique for the detection of the delta-F508 mutation in a 6-month-old Mexican boy who died without definitive diagnosis. The tissue available from the child was a formaldehyde fixed paraffin-embedded liver. We identified the delta-F508 mutation in homozygous form in the propositus and in a heterozygous form in his parents. This represents the first report of CF molecular diagnosis in Mexico.
Salcedo
M
M
Depto. de Investigación en Genética Humana, Instituto Nacional de Pediatría, México, D.F.
Chávez
M
M
Ridaura
C
C
Moreno
M
M
Lezana
J L
JL
Orozco
L
L
D001344:Autopsy; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007223:Infant; D008099:Liver / Q000166:cytology; D008297:Male; D008800:Mexico; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods