ABSTRACT
The delta F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion.
Subject(s)
Cystic Fibrosis/genetics , Gene Frequency , Mutation/genetics , Base Sequence , Brazil , Chromosomes, Human, Pair 7 , Female , Humans , Male , Molecular Sequence Data , Pedigree , Polymerase Chain ReactionABSTRACT
Os autores submeteram 500 recem-nascidos a teste simplificado (Rapi Tex IgM) que por simples reacao de aglutinacao evidencia quantidades anormalmente elevadas de IgM no sangue do cordao umbilical. Os resultados obtidos pela triagem foram avaliados atraves de dosagens de IgM no sangue do cordao umbilical exame morfologico de placentas (macro e microscopia), acompanhamento clinico e laboratorial de alguns casos e exame anatomopatologico dos casos em que ocorreu o obito. Concluem pela validade do teste na triagem de infeccoes pre-natais
