ABSTRACT
Background: Previous studies have shown the association of genetic factors such as PAI-1 4G/5G polymorphism with susceptibility to breast cancer patients. The aim of this study was to investigate the effect of this polymorphism in breast cancer patients from North West of Iran
Methods: 160 breast cancer patients and 160 healthy individuals were selected. Peripheral blood-DNA samples were taken and used for PCR amplification using the allele specific primers
Results: Based on molecular studies, all patients and control group were divided into three genotypes 4G/4G, 4G/5G and 5G/5G. Genotype distribution between patients [11.25%, 71.25% and 17.50%, respectively] and controls [10.62%, 71.87% and 17.50%, respectively]. Additionally, the frequencies of the 4G and 5G alleles between patients [46.87% and 53.12%, respectively] and control group [46.56% and 53.43%, respectively]
Conclusion: The genotypic and allelic frequencies of PAI-1 4G/5G polymorphism showed no significant difference between breast cancer patients and control individuals in this cohort
ABSTRACT
Background and Objectives: coexistence of Familial Mediterranean Fever [FMF] with various systemic vasculitides, such as Henoch Schonlein Purpura [HSP] and other inflammatory disorders has been reported and MEFV gene has been suggested to play a significant role in the pathogenesis of this association. In This study, the rare MEFV mutations in patients with HSP from north west of country and its association with clinical symptoms of disease were evaluated
Material and Methods: Forty unrelated patients were referred by specialists to the Molecular Medical Genetic Center of Tabriz. Clinical diagnosis of HSP was made according to published criteria. The control group consists of 200 ethnically matched persons apparently healthy without any king of inflammatory diseases. screening for the 3 mutations; R761H, P396S and R408Q were performed by using amplification refractory mutation system polymerase chain reaction [ARMS-PCR[and polymerase chain reaction restriction fragment length polymorphism [PCR-RFLP]. Chi[2] test and Fisher's exact test were used to statistical analysis
Results: Of 40 patients studied, 37 [92.5%] showed without mutation, while 3 [7.5%] had MEFV mutation that three of them were compound heterozygous for the P396S/R408Q mutations. There was a statistically significant difference between the patient group and healthy individuals regarding P396S and R408Q mutations [p= 0.0043]. findings suggest that P396 and R408Q mutations always together occurred and not only contribute to the susceptibility to HSP, also associated with clinical symptom of fever
Conclusion: Our results suggest that some MEFV mutations could be a contributory genetic factor to HSP in the north west of the country