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:: Volume 19, Issue 12 (12-2017) ::
JBUMS 2017, 19(12): 22-27 Back to browse issues page
Investigation of Mutation in a Part of Exon 15 of APC Gene in Patients with Familial Adenomatous Polyposis in Gilan Province
M Ahmad Sharbafi , N Ranji
Islamic Azad University , najmehranji@gmail.com
Abstract:   (1170 Views)

BACKGROUND AND OBJECTIVE: Familial adenomatous polyposis (FAP) is a colorectal cancer caused by the mutation in the APC gene, inherited as an autosomal dominant. In patients with FAP, adenomas are formed after the age of 20, which develop malignant tumors one or two decades later. The aim of this study was to determine the mutation in a part of exon 15 of APC gene in patients with familial adenomatous polyposis in Gilan province.
METHODS: In this study, a nonsignificant mutation (c.3184C > T, p.Q1062X) was identified in a person with a classic FAP with severe polyposis.
FINDINGS: In this study one nonsense mutation (c.3184C>T, p.Q1062X) was identified in a classic FAP patient with severe polyposis.
CONCLUSION: The results of the study showed that severe polyposis was associated with a nonsignificant mutation that resulted in the production of short APC protein in a person with FAP.

 

Keywords: APC gene, FAP, mutation, PCR, sequencing
Full-Text [PDF 249 kb]   (260 Downloads)    
Type of Study: Research | Subject: J
Received: 2017/07/20 | Accepted: 2017/12/10 | Published: 2017/12/27
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Ahmad Sharbafi M, Ranji N. Investigation of Mutation in a Part of Exon 15 of APC Gene in Patients with Familial Adenomatous Polyposis in Gilan Province. JBUMS. 2017; 19 (12) :22-27
URL: http://jbums.org/article-1-6993-en.html


Volume 19, Issue 12 (12-2017) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی بابل Journal of Babol University of Medical Sciences

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