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Showing 3 results for Mutation
Study the Molecular Association between a Deletion Mutation in CHEK2 gene (5395 bp) and Breast Cancer
Manijeh Jalilvand, Reza Najafipoor, Mohammad Shekari, Mana Oloomi, Safar Ali Alizadeh, Abdolazim Nejatizadeh,
Volume 3, Issue 1 (5-2015)
Abstract

Background & Objectives: Breast cancer is the most common cancer among women and the second most common cause of cancer death. Genetic factors play an important role in the development of breast cancer. Among these genetic factors, CHEk2 (checkpoint kinase 2) gene, as a tumor suppressor gene, plays a critical role in DNA repair. Germline mutations in CEHK2 result in the loss of this feature. One of the mutations in CHEK2 gene is a 5395 bp deletion mutation which has been associated with the increasing risk of Breast Cancer in some populations in the world.  In the present study, we investigated the association between a 5395 bp deletion mutation in CHEK2 gene and the risk of Breast Cancer in the women of an Iranian population.

Methods: Pathologic information of 38 cases under the age of 45 and 62 cases over the age of 45 referring to surgery ward of Milad Hospital in Tehran were extracted. 100 healthy controls were included in the study as well. After obtaining informed consent, 5 mL whole blood was taken DNA was successfully isolated. Multiplex PCR was used to investigate the association between a 5395bp deletion mutation in CHEK2 gene and increasing risk of Breast Cancer among patients.

Results: The 5395bp deletion mutation in CHEK2 gene was not found in any of the participating groups of patients or heathy controls.

Conclusion: The present study revealed that there is no significant relation between increasing the risk of Breast Cancer and bearing large deletion mutation in exon 9 and exon 10 of CHECK2 gene.


Molecular Identification of G6PD Chatham (1003 G>A) in North-West Iran
Habib Onsori, Davood Poladi, Mehdi Valizadeh, Afshin Fathi, Mahshid Damandan, Rouhallah Moradpour,
Volume 8, Issue 3 (10-2020)
Abstract
Background and objective: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human diseases with approximately 400 million people affected worldwide. G6PD Chatham is caused by 1003 G>A mutation leads to a severe enzymatic deficiency. The aim of the present study is to investigate the frequency rate of the Chatham mutations in the population of the North-West of Iran.
Material And Method: In this study, by Rapid Genomic DNA Extraction (RGDE) method, from 90 peripheral blood samples of unrelated male and female patients with genetic deficiency of G6PD, DNA was extracted and after digestion by Bstx1 enzymes, in order to search for Chatham mutation, they were analyzed by means of PCR-RFLP and sequencing methods.
Result: According to the results, Chatham mutation was observed in 10 samples (11.11%).
Conclusion: This study showed that G6PD Chatham (1003 G>A) mutation is the second common mutation, after Mediterranean (563C>T), in the population of the North-West of Iran. Further studies are recommended to identify the mutation type of other varieties.
 

Common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q ) in patients with Behcet's disease in Ardabil
Yousef Mohammadi-Kebar, Saeed Hoseini-Asl, Ahad Azami, Farhad Salehzadeh, Sanam Sadeghian,
Volume 10, Issue 3 (10-2022)
Abstract
Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and performing a small number of studies about MEFV gene mutations in patients with BD, this study aimed to determine the frequency of MEFV gene mutations in Ardabil patients with BD.
Material and Methods: Fifty patients with BD were diagnosed according to the International Study Group criteria for BD (for oral pests, genital pests, and ocular lesions, 2 points each, skin symptoms, vascular symptoms, positive pathogenesis test, and neurological symptoms, 1 point each). A score of 4 or higher indicated BD. All patients were analyzed for five common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using amplification refractory mutation system and Polymerase Chain Reaction (PCR) restriction-digestion testing methods. A cohort of 224 healthy people who had been previously genotyped regarding the five common MEFV mutations served as the control group.
Results: The mean age of patients was 38.68±11 years. Most BD patients (56%) and 50.4% of the control group were women. Of all patients, 66% (33) mentioned that their parents had no family relationship. Among 50 patients with BD, 12 (24%) had mutations in the MEFV gene, of which seven patients (58.3%) had E148Q mutation. Among healthy individuals, 57 patients (25.4%) had mutations, of which 39 (68.4%) had E148Q mutation. The difference between the two groups was not significant.
Conclusion: Results showed that most patients with BD had mutations in the MEFV gene and the most common case was E148Q mutation which was similar to the healthy population in terms of BD agent.



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