Clinical and genetic characterization of familial adenomatous polyposis : an Iranian population study
Joint Authors
Mirinezhad, Sayyid Kazim
Muaddab, Sayyid Yaqub
Shirazi, Kourosh Masnadi
Bonyadi, Morteza Jabbarpour
Sadat, Amir Tahir Iftekhar
Grami, Sosan Mir Najead
Somi, Muhammad Husayn
Source
Iranian Red Crescent Medical Journal
Issue
Vol. 20, Issue 4 (30 Apr. 2018), pp.1-6, 6 p.
Publisher
Publication Date
2018-04-30
Country of Publication
United Arab Emirates
No. of Pages
6
Main Subjects
Abstract EN
Background : Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder, which can develop into cancer in early adulthood (100 %) and is a result of germline mutations in the adenomatous polyposis coli (APC) genes.
Objectives : Identify APC germline mutations and assessed relationships between genotypes and phenotypes.
Methods : In a census-based cross-sectional study, FAP patients were selected from the referral medical centers of East Azarbaijan province between 2013 and 2016.
Written informed consent was obtained from all patients for blood sampling and genetic testing.
Patients undergo genetic counseling, and the pedigree was drawn.
After peripheral blood sampling and DNA extraction, the potential mutation of the APC gene was detected by polymerase chain reaction (PCR), and DNA sequencing.
Statistical tests were carried out using SPSS version 16.0.
Categorical data between two groups were compared using the chi-square test.
Independent sample t- test was used for comparison of continuous variables between two groups.
The P-value < 0.05 was considered statistically significant.
Results : We identified APC gene mutations in 18 of the 30 unrelated patients with FAP (60 %), including one novel frame shiftmutation, three nonsense mutations, and 14 novel missense mutations (78 %).
The most frequent mutations were in codon 1308 and 1350.
Meanwhile, we found a novel polymorphism.
Conclusions : Our study results indicated that the APC gene has a high mutation detection rate (60 %) between codons 999 and 1410, and codons 1308, and 1350 are two mutation hotspot regions.
American Psychological Association (APA)
Mirinezhad, Sayyid Kazim& Muaddab, Sayyid Yaqub& Shirazi, Kourosh Masnadi& Bonyadi, Morteza Jabbarpour& Sadat, Amir Tahir Iftekhar& Grami, Sosan Mir Najead…[et al.]. 2018. Clinical and genetic characterization of familial adenomatous polyposis : an Iranian population study. Iranian Red Crescent Medical Journal،Vol. 20, no. 4, pp.1-6.
https://search.emarefa.net/detail/BIM-897761
Modern Language Association (MLA)
Mirinezhad, Sayyid Kazim…[et al.]. Clinical and genetic characterization of familial adenomatous polyposis : an Iranian population study. Iranian Red Crescent Medical Journal Vol. 20, no. 4 (Apr. 2018), pp.1-6.
https://search.emarefa.net/detail/BIM-897761
American Medical Association (AMA)
Mirinezhad, Sayyid Kazim& Muaddab, Sayyid Yaqub& Shirazi, Kourosh Masnadi& Bonyadi, Morteza Jabbarpour& Sadat, Amir Tahir Iftekhar& Grami, Sosan Mir Najead…[et al.]. Clinical and genetic characterization of familial adenomatous polyposis : an Iranian population study. Iranian Red Crescent Medical Journal. 2018. Vol. 20, no. 4, pp.1-6.
https://search.emarefa.net/detail/BIM-897761
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 5-6
Record ID
BIM-897761