A 4-base-pair deletion polymorphism in man |
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| Authors: | Cor Breukel Carli M. J. Tops P. Meera Khan |
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| Affiliation: | 1. Human Genetics Institute, Sylvius Laboratory, University of Leiden, P.O. Box 9503, 2300, RA Leiden, The Netherlands
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| 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. |
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| Keywords: | Base-pair deletion polymorphisms polymerase chain reaction (PCR) gene mapping human chromosome 5 familial adenomatous polyposis |
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