Artículos de revistas
FREQUENCY OF THE CYSTIC-FIBROSIS DELTA-F-508 MUTATION IN A POPULATION FROM SAO-PAULO STATE, BRAZIL
Registro en:
Brazilian Journal Of Medical And Biological Research. Assoc Bras Divulg Cientifica, v. 26, n. 10, n. 1037, n. 1040, 1993.
0100-879X
WOS:A1993MD38100004
Autor
MARTINS, CSB
RIBEIRO, F
COSTA, FF
Institución
Resumen
Cystic fibrosis (CF) nonrelated patients (N = 24) from Sao Paulo State, Brazil, were screened for the presence of the DELTAF 508 mutation by PCR amplification of the deletion region with the primers C16B(5'GTTTTCCTGGATTATGCCTGGGCAC3') and C16D (5'GTTGGCATGCTTTGAT-GACGCTTC3') and by acrylamide gel electrophoresis.The allelic frequency of the DELTAF 508 mutation was 33 % (15/48 chromosomes). The genotype distribution among the patients showed 12.5 % (N = 3) of DELTAF 508 homozygotes, 37.5 % (N = 9) of DELTAF heterozygotes and 50 % (N = 12) of non-carriers of the mutation. The frequency observed in this study is lower than that estimated for the North American and North European population (75 % to 80 %) and is similar to that described in Southern Europe (25 % to 50 %) which is consistent with the origins of this population. 26 10 1037 1040