Olschwang S, Fabre R, Laurent-Puig P, Vassal A, Hamelin B, Nakamura Y, Thomas G
Laboratoire de Génétique des Tumeurs, Institut Curie, Paris, France.
Hum Genet. 1992 Mar;88(6):658-60. 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.
