Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, including exons 6, 7, 8, 11, and 12 were studied through polymerase chain reaction and sequencing techniques. Results: Eight different mutations, including 5 missense mutations, 1 splice mutation, 1 nonsense mutation, and 1 Silent/Splice mutation were detected. These mutations were R243X, R261Q, R261X, P281L, R241C, V399V, E280K, and IVS11+1G>C. V399V and R241C were reported for the first time in Iranian population. Three polymorphisms including Q232Q, V245V and L385L and 3 novel intronic variants including IVS10-15A>C, IVS6+44T>G, and IVS6+36 T>G were also detected in this study. Conclusion: The results of this study prove the heterogeneous status of phenylalanine hydroxylase gene mutations in the Iranian population, which can be useful in carrier testing and genetic counseling.
Background: Prostate cancer is a complex condition in which both genetic and environmental factors concomitantly contribute to the tumor initiation and progression. Recently, HOXB13 has been proposed as a susceptibility gene for prostate cancer. Objective: The present study was conducted to determine the existence of potential variations in HOXB13 gene in Iranian men with prostate cancer (PCa) compared to benign prostatic hyperplasia (BPH) cases. Methods: HOXB13 genetic status was screened in 51 samples, including 21 blood and tissue of PCa cases, and compared to 30 cases affected by BPH using PCR/sequencing. Then, the existence of potential association was investigated between genomic DNA alterations in blood and tissue PCa specimens. Results: Analysis of BPH tissues showed single nucleotide variations c.366C > T (rs) or c.513T > C (rs9900627) in exon 1, but not in exon 2. Evaluation of PCa tissues revealed 2 cases with both synonymous c.366C > T and c.513T > C variants and 2 cases with the synonymous c.366C > T variant in exon 1. The variants c.366C > T and c.513T > C, simultaneously or separately, were found in blood samples of PCa patients. The novel variant c.127A > G in exon 2 was detected in 1 PCa blood sample. Our analysis indicated a significant reciprocal correlation between HOXB13 mutation in the tissue and blood samples of PCa cases (p= 0.02). Conclusion: The variants in exon 2 of HOXB13 may influence the risk of prostate cancer. Also, evaluation of HOXB13 mutation may be considered as a novel marker for screening PCa. Further investigations are warranted to evaluate the clinical significance of HOXB13 in Iranian population.
Background: Prostate cancer is a complex condition, in which both genetic and environmental factors concomitantly contribute to the tumor initiation and progression. Recently, HOXB13 has been proposed as a susceptibility gene for prostate cancer. Objective: So the current study was conducted to test the existence of potential variations in HOXB13 gene in Iranian men with prostate cancer (PCa) compared to benign prostatic hyperplasia (BPH) cases. Methods: The HOXB13 genetic status was screened in 51 samples, including 21 blood and tissue of PCa cases compared to 30 cases affected by BPH using PCR/sequencing. Then potential association between genomic DNA alterations in blood and tissue PCa specimens was investigated Results: Analysis of BPH tissues showed single nucleotide variations c.366C > T (rs) or c.513T > C (rs9900627) in exon 1, but not in exon 2. Evaluation of PCa tissues revealed two cases with both synonymous c.366C > T and c.513T > C variants and two cases with the synonymous c.366C > T variant in exon 1. The variants c.366C > T and c.513T > C simultaneously or separately were found blood samples of PCa patients. The novel variant c.127A > G in the exon 2 was detected in 1 PCa blood sample. Our analysis indicated a significant reciprocal correlation between HOXB13 mutation in tissue and blood in PCa cases (P=0.02). Conclusion: The variants in exon 2 of HOXB13 may influence the risk of prostate cancer. Also, evaluation of HOXB13 mutation may be considered as a novel marker for screening of PCa. Further investigations are warranted to evaluate the clinical significance of HOXB13 in Iranian population.
Background and aims: In- stent restenosis (ISR) is the Achilles heel of angioplasty. AnnexinA5 as an anticoagulant has been shown have anti-inflammatory and anti-atherosclerotic effects. Here we aim to investigating the mRNA expression of AnnexinA5 in peripheral white blood cell of patients with in-stent restenosis. Methods Patients with the history of coronary stent implantation who candidate for re-angiography were entered the study and allocated into two groups according the results of re-angiography; in-stent restenosis (stenosis ≥ 50% in stent) and non-in-stent restenosis (stenosis < 50% in stent). Total RNA of WBC was extracted and cDNA was synthesized using commercial kits. AnnexinA5 expression was assessed with real time PCR and TaqMan probe and reported in relation with GAPDH as a housekeeping gene. Result AnnexinA5 expression was investigated in total 50 participants including 25 ISR and 25 non-ISR. Baseline characteristics including age, sex, smoking habits, hypertension, diabetes mellitus, dyslipidemia and stent in LAD were statistically the same in cases and controls. AnnexinA5 expression in ISR patients was 50% lower than controls. Conclusion AnnexinA5 is down-regulated in ISR and could be considered as a biomarker for predicting ISR and furthermore it could be used as prevention for ISR occurrence.
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