development of a molecular method for the diagnosis of the polyp in tunisian families

摘要

the present invention relates to the development of a simple and reliable molecular method for the diagnosis of familial polyposis of hmutyh or map. a recurrent mutation was identified in eight tunisian families with the map.it is located in exon 1 of the gene, and is a mutyh duplication of a dimer to the position 1227 - 1228 - hmutyh of the coding sequence of the gene. this insertion causes the lag of the frame with the introduction of a premature stop codon, resulting in a protein composed of 452 amino acids.a recurrent mutation was detected by direct sequencing of the pcr product of amino acids. this recurrent mutation was detected by direct sequencing of the pcr product amplified a fragment of 534 bp covering exons 12 and 13.in order to find more easily the recurrent mutation in tunisian families with the map, we have developed a pcr based method piont allele specific to screen individuals quickly and at a low cost.