Detection by DGGE of a new polymorphism closely linked to the adenomatous polyposis coli region.
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.
Olschwang
S
S
Laboratoire de Génétique des Tumeurs, Institut Curie, Paris, France.
Fabre
R
R
Laurent-Puig
P
P
Vassal
A
A
Hamelin
B
B
Nakamura
Y
Y
Thomas
G
G
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001483:Base Sequence; D002895:Chromosomes, Human, Pair 5; D004247:DNA; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D004247:DNA