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A 4-base-pair deletion polymorphism in man
Authors:Cor Breukel  Carli M J Tops  P Meera Khan
Institution:1. Human Genetics Institute, Sylvius Laboratory, University of Leiden, P.O. Box 9503, 2300, RA Leiden, The Netherlands
Abstract:Partial nucleotide sequencing of C11p11, a probe mapping close to the gene determining familial adenomatous polyposis (FAP) on human chromosome 5, in 4 unrelated persons has revealed a 4-base-pair deletion variant designated DELI at an arbitrary DNA locus D5S71. For screening the deletion variants that may frequently occur in the non-coding DNA sequences, we set up a non-invasive procedure which involves DNA amplification by PCR, simple polyacrylamide gel electrophoresis and direct visualisation of alleles under long wave ultraviolet light by ethidium bromide staining.
Keywords:Base-pair deletion polymorphisms  polymerase chain reaction (PCR)  gene mapping  human chromosome 5  familial adenomatous polyposis
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