Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients


Autoria(s): Miranda,Antonio B. de; LLerena Junior,Juan; Dallalana,Ludma T.; Moura-Neto,Rodrigo S.; Suffys,Philip N.; Degrave,Wim M.
Data(s)

01/06/1993

Resumo

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

Formato

text/html

Identificador

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02761993000200022

Idioma(s)

en

Publicador

Instituto Oswaldo Cruz, Ministério da Saúde

Fonte

Memórias do Instituto Oswaldo Cruz v.88 n.2 1993

Palavras-Chave #cystic fibrosis #PCR #[Delta]F508 #diagnosis
Tipo

journal article