Article
Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.
Journal of medical genetics - 1 Jun 1996
Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F
Abstract excerpt
We screened for 22 cystic fibrosis (CF) mutations in DNA from a first cohort of 69 CF patients from southern Italy using a semiautomated allele specific oligonucleotide (ASO) dot blot procedure based on two multiplex PCR amplifications. Seven mutations (delta F508, N1303K, G542X, 1717-1 G-->A, W1...
Topics
- Carrier State
- Cohort Studies
- Cystic Fibrosis
- Double-Blind Method
- Haplotypes
- Humans
- Italy
- Molecular Epidemiology
- Mutation
- Polymerase Chain Reaction
- Prenatal Diagnosis
- Robotics