Article
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards.
American journal of medical genetics - 1 Jul 1993
Raskin S, Phillips J A, Krishnamani M R, Vnencak-Jones C, Parker R A, Rozov T, Cardieri J M, Marostica P, Abreu F, Giugliani R
Abstract excerpt
A 3 bp deletion of codon 508 (phenylalanine) of the cystic fibrosis (CF) gene constitutes the mutation of most CF chromosomes. The frequency of this mutation (referred to as delta F508), varies considerably between populations, ranging from 26% of the CF mutations in Turkey to 88% in Denmark. To...
Topics
- Base Sequence
- Brazil
- Child
- Cystic Fibrosis
- DNA
- DNA Mutational Analysis
- Female
- Gene Frequency
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction