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|Type:||Artigo de periódico|
|Title:||FREQUENCY OF THE CYSTIC-FIBROSIS DELTA-F-508 MUTATION IN A POPULATION FROM SAO-PAULO STATE, BRAZIL|
|Abstract:||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.|
|Editor:||Assoc Bras Divulg Cientifica|
|Appears in Collections:||Artigos e Materiais de Revistas Científicas - Unicamp|
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