[Specific gene deletion in patients with cystic fibrosis: pilot study of a small patient cohort].
Identification and molecular cloning of the cystic fibrosis (CF)-gene was a major progress in genetic counseling of families with one or more affected children. In caucasian families about 70% of the CF-patients show a homozygous or heterozygous deletion of one amino acid, that is phenylalanine at position 508 (delta F508). In a pilot study we examined the DNA of 14 CF-patients for F508 deletions. DNA was amplified by PCR and hybridized with a oligonucleotide-probe specific for the mutation containing CF-gene. Surprisingly all of the patients had a deletion of F508 of at least one allele (10 for both alleles, 4 for one allele). This method is of great importance for carrier-diagnosis. The finding of these or other deletions within the CF-gene may represent a prognostic marker for this disease.
Universitäts-Kinderklinik, Würzburg.
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D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000235:genetics*; D005784:Gene Amplification; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization; D010865:Pilot Projects
Spezifische Gendeletionen bei Patienten mit zystischer Fibrose: Pilotstudie an einem kleinen Patientenkollektiv.