Gene mutations in esophageal mucosa of chagas disease patients.
نویسندگان
چکیده
BACKGROUND Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. MATERIALS AND METHODS 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. RESULTS 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. CONCLUSION 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.
منابع مشابه
Prevalence of Nucleotide Alterations of EGFR Gene in Patients with Esophageal Squamous Cell Carcinoma in Kerman
Background & Aims: Esophageal Cancer is the sixth fatal cancer in the world. Squamous and adenocarcinoma account for 95% of esophageal cancer. The expression of EGFR has a role in the pathophysiology of epidermal-based malignancies such as esophageal cancer. EGFR is also an important criterion in the evaluation of disease staging and prognosis. The aim of this study was to survey the prevalence...
متن کاملIdentification of p53 Gene Mutations among Iranian Patients Involved with Esophageal Squamous Cell Carcinoma: the Efficiency of the Two Different Methods
متن کامل
ژنتیک مولکولی و ژن درمانی در سرطان مری: مقاله مروری
Background: With approximately 386,000 deaths per year, esophageal cancer is the 6th most common cause of death due to cancer in the world. This cancer, like any other cancer, is the outcome of genetic alterations or environmental factors such as tobacco smoke and gastro-esophageal reflux. Tobacco smoking is a major etiologic factor for esophageal squamous cell carcinoma in western countries, a...
متن کاملChromosomal imbalances are uncommon in chagasic megaesophagus
BACKGROUND Chagas' disease is a human tropical parasitic illness and a subset of the chronic patients develop megaesophagus or megacolon. The esophagus dilation is known as chagasic megaesophagus (CM) and one of the severe late consequences of CM is the increased risk for esophageal carcinoma (ESCC). Based on the association between CM and ESCC, we investigated whether genes frequently showing ...
متن کاملNovel mutations in ATP7B gene of Wilson\'s disease in Iranian patients
Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Anticancer research
دوره 29 4 شماره
صفحات -
تاریخ انتشار 2009