Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates.
We report here a comparison of isotopic and non-isotopic conformation analysis approach, for screening genomic DNA for coding variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A large pool of non-human primates was tested in order to detect naturally occuring CFTR carriers, for future testing of gene therapy of cystic fibrosis. We screened 25 of 27 CFTR exons in over 1,000 animals. We have detected numerous missense mutations and single nucleotide polymorphisms. We found that both methods are highly efficient for detection of variations in DNA sequence, but the non-radioactive approach is faster, less expensive and in some cases more sensitive.
University of Ljubljana, Medical Faculty, Institute of Pathology, Laboratory of Molecular Genetics, Korytkova 2, SI-1000 Ljubljana, Slovenia, , , , , , SI.
Damjan
D
Glavač
University of Ljubljana, Medical Faculty, Institute of Pathology, Laboratory of Molecular Genetics, Korytkova 2, SI-1000 Ljubljana, Slovenia, , , , , , SI.
Metka
M
Ravnik-Glavač
University of Ljubljana, Medical Faculty, Institute of Pathology, Laboratory of Molecular Genetics, Korytkova 2, SI-1000 Ljubljana, Slovenia, , , , , , SI.
Uroš
U
Potočnik
NIH, National Cancer Institute, Laboratory of Genomic Diversity, Maryland, USA, , , , , , US.
Michael
M
Dean
Cystic Fibrosis Research Laboratory, Stanford University, Stanford, California, USA, , , , , , US.
Jeffrey
J
Wine
CFTR gene; Key words non-isotopic conformation analysis; animal model; gene therapy; mutation detection