Περίληψη:
We have screened 175 patients for molecular defects in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene using
nondenaturing polyacrylamide gel electrophoresis (PAGE), denaturing
gradient gel electrophoresis (DGGE), and sequencing. Six different
mutations (F508del, G542X, 621+1G –> T, 2789+5G –> A, R1070Q, and
S466X) accounted for 79.71% of CF alleles, with the F508del mutation
showing a frequency of 72.28%. Another 12 mutations (R334W, 2184insA,
1507del, 1525-1G –> A, E585X, R75X, MII, 457TAT –> G, 574delA,
2723deiTT, A120T, and 2907delTT) covered an additional 3.36%. A novel
mutation (2723deiTT) was found in one CIF patient (F508del/2723delTl’).
Thus, a total of 18 mutations cover 82.57% of CF alleles. During our
study, 72% of families at risk for having a CF child were found to be
fully informative for prenatal diagnosis. Prenatal diagnosis was
performed on 56 families; 76 analyses resulting in 16 affected, 38
carriers, and 22 healthy fetuses. These results imply that the molecular
basis of CIF in Serbia and Montenegro is highly heterogeneous, as is
observed in other eastern and southern European populations. Because we
detected more then 80% of CFTR alleles, results could be used for
planning future screening and appropriate genetic counseling programs in
our country.
Συγγραφείς:
Radivojevic, D
Djurisic, M
Lalic, T
Guc-Scekic, M
Savic,
J
Minic, P
Antoniadi, T
Tzetis, M
Kanavakis, E
