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Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy
Author(s) -
RavnikGlavač Metka,
Glavač Damjan,
Chernick Mila,
Sant'Agnese Paul Di,
Dean Michael
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030309
Subject(s) - single strand conformation polymorphism , biology , exon , genetics , cystic fibrosis , allele , mutation , gene , microbiology and biotechnology
Twenty adolescent and adult cystic fibrosis (CF) patients have been studied for the presence of mutations in the CFTR gene. Mutations other than deltaFSOS have been detected by comparison to the single‐stranded conformation polymorphism (SSCP) pattern of known mutations in eight exons, in which 80% of the more common mutations are present. Each mutation was confirmed by direct sequencing. For each of the analyzed exons, optimal SSCP conditions have been determined that allow all available known mutations in that exon to be distinguished from each other. This approach allowed mutations to be defined in 75% of the non deltaF508 alleles and 92% of all CF alleles in this cohort. © 1994 Wiley‐Liss, Inc.