[Characterization of 3 microsatellites of the cystic fibrosis gene in Argentine families].
Argentine population is highly heterogeneous for the cystic fibrosis (CF) transmembrane regulator (CFTR) gene mutations. The study of 14 more common mutations identified both mutated alleles in only 51% of patients. This study confirmed the diagnosis of cystic fibrosis in these patients and enabled the detection of asymptomatic carriers in their families. However, in the remaining patients the direct molecular assay did not provide the necessary information for genetic counselling. To establish the mutated allele transmission in the affected families, negative for the most common mutations, three microsatellites (IVS17bTA, IVS8CA and IVS17bCA) located in intronic regions of CFTR gene were studied. In the 40 CF families analyzed, different allelic variants were detected: 15 for IVS17bTA, 10 for IVS8CA and 4 for IVS17bCA. Polymorphism information content and heterozygosity were high, except for IVS17bCA. By the simultaneous analysis of the three microsatellites we could counsel 100% of the families. Ours results show that these microsatellites are an excellent group of markers for linkage studies in cystic fibrosis families of the Argentine population.
Visich
A A
AA
Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
Barreiro
C Z
CZ
Chertkoff
L P
LP
D000483:Alleles; D001118:Argentina; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004276:DNA, Satellite / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation
C505032:CFTR protein, human; D004276:DNA, Satellite; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator