Familial polyposis coli - inducing mutations in APC gene in Poland

• Autorzy: Pawlak A L , Plawski A , Smoczkiewicz P , Kwiatkowska J , Meissner W , Krokowicz P , West S P
• Języki publikacji: EN

Abstrakty

EN

Screening for molecular changes within the adenomatous polyposis coli (APC) gene, exons 11-14 and the 5’ half of exon 15, encompassing the mutation cluster region within exon 15, was performed in 30 patients with Familial Polyposis Coli (FAP). All patients were studied by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) and molecular changes were found in 7 cases. Protein truncation test (PTT) has been performed in 17 cases in which mutations have not been found earlier, and shortening of protein product was noted in 2 cases. In three cases common deletion of 5 bp at codon 1309 and in one 5 bp deletion at codon 1061 were found. In other cases the molecular changes were demonstrated as heteroduplexes in exon 14 (1 patient), in segments E and F (one patient each) of exon 15, and in two cases the heteroduplexes were within the overlapping sequences of segments E/F and F/G of exon 15, respectively. In families where the molecular changes were found by HA, 7 persons at high risk for FAP were found and advised to undergo regular endoscopic examinations. In three persons at risk the transfer of mutation was excluded.

Słowa kluczowe

EN

familial adenomatous polyposis; protein truncation test; Polish population; mutation; polymerase chain reaction; heteroduplex analysis

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 1997
• Tom: 38
• Numer: 1
• Opis fizyczny: p.77-85,fig.

Twórcy

autor

Pawlak A L

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Plawski A

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Smoczkiewicz P

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Kwiatkowska J

• Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland

autor

Meissner W

• 3rd Chair of Surgery, Medical University, Poznań

autor

Krokowicz P

• 3rd Chair of Surgery, Medical University, Poznań

autor

West S P

• Department of Human Genetics, University of Newcastle upon Thyne, U.K.

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