Summary
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) amplificiation 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 aMnlI 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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Olschwang, S., Fabre, R., Laurent-Puig, P. et al. Detection by DGGE of a new polymorphism closely linked to the adenomatous polyposis coli region. Hum Genet 88, 658–660 (1992). https://doi.org/10.1007/BF02265293
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DOI: https://doi.org/10.1007/BF02265293