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Detection by DGGE of a new polymorphism closely linked to the adenomatous polyposis coli region


Detection by DGGE of a new polymorphism closely linked to the adenomatous polyposis coli region



Human Genetics 88(6): 658-660



ISSN/ISBN: 0340-6717

PMID: 1312993

DOI: 10.1007/bf02265293

The EF5.44 locus is in close proximity to the chromosome 5 region to which the genetic defect responsible for familial adenomatous polyposis has been mapped. We have devised two oligonucleotides that promote the specific polymerase chain reaction (PCR) amplification of a 365-bp sequence in this region. Analysis by denaturing gradient gel electrophoresis of the resulting fragment has unravelled individual differences that could be identified as a single base pair change in a MnlI restriction site. This PCR assayable polymorphism increases the informativeness at this locus, and should be useful in the presymptomatic diagnosis of familial adenomatous polyposis.

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Accession: 039772186

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