title: Large-scale screening for HFE mutations: methodology and cost.
abstract: Large-scale detection of mutations at the DNA level requires the development of cost-effective methods for the screening of thousands of samples. Hemochromatosis is an appropriate testing ground for the development of such technologies, and we report the methods that we have developed to screen large numbers of samples using equipment available in most laboratories. We are able to examine DNA samples for two mutations in the HFE gene at a cost of only slightly over $8 per sample, a cost that includes overhead and the approximately 40 hr per week of technician time required to perform the studies. The technologies involved in mutation analysis are evolving rapidly and ultimately more highly automated, lower-cost technologies may become available. At present, however, we find the methodology described to be very suitable for large-scale, low-cost mutation screening.
authors.affiliation: The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037, USA. beutler@scripps.edu
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins