Gene mutations in esophageal mucosa of chagas disease patients.
Copyright policy )Gene mutations in esophageal mucosa of chagas disease patients.
Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma.PCR-SSCP analysis and DNA sequencing of esophageal mucosa from Chagas disease patients (with or without megaesophagus) in the exons of the TP53, CDKN2A and FHIT genes were performed.SSCP analysis showed a mobility shift in 2/20 patients with grade IV megaesophagus (CDKN2A exon 1 and FHIT exon 7) and in 1/10 patients without megaesophagus (TP53 exons 5 and 8). However, DNA sequencing indicated a silent mutation in exon 7 of the FHIT gene (GCT --> GCC) in codon 88 in only one case of megaesophagus.Gene mutations are rare events in the exons investigated in esophageal mucosa of Chagas disease patients and further investigations are important to clarify the possible involvement of this silent mutation in exon 7 (FHIT gene) in the advanced grades of megaesophagus and esophageal carcinogenesis.
Male, Chagas disease, Megaesophagus, gene mutation, Tp53 gene, Esophageal Neoplasms, CDKN2A gene, 610, Electrophoretic Mobility Shift Assay, Polymerase Chain Reaction, FHIT gene, Esophagus, single nucleotide polymorphism (SNP), Megaesophagus, Cdkn2a gene, TP53 gene, Humans, Chagas Disease, DNA sequencing, gene mutation, Cyclin-Dependent Kinase Inhibitor p16, Polymorphism, Single-Stranded Conformational, Aged, Fhitgene, Aged, 80 and over, Middle Aged, Prognosis, Acid Anhydride Hydrolases, Neoplasm Proteins, Dna sequencing, Case-Control Studies, Mutation, Female, Single nucleotide polymorphism (snp), Tumor Suppressor Protein p53
Male, Chagas disease, Megaesophagus, gene mutation, Tp53 gene, Esophageal Neoplasms, CDKN2A gene, 610, Electrophoretic Mobility Shift Assay, Polymerase Chain Reaction, FHIT gene, Esophagus, single nucleotide polymorphism (SNP), Megaesophagus, Cdkn2a gene, TP53 gene, Humans, Chagas Disease, DNA sequencing, gene mutation, Cyclin-Dependent Kinase Inhibitor p16, Polymorphism, Single-Stranded Conformational, Aged, Fhitgene, Aged, 80 and over, Middle Aged, Prognosis, Acid Anhydride Hydrolases, Neoplasm Proteins, Dna sequencing, Case-Control Studies, Mutation, Female, Single nucleotide polymorphism (snp), Tumor Suppressor Protein p53
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