Publications by authors named "Saeid Ghorbian"

28 Publications

  • Page 1 of 1

Evaluation of the clinical significance of RNase III enzyme DROSHA in pediatrics acute lymphocytic leukemia.

Mol Biol Rep 2021 Jan 3;48(1):451-456. Epub 2021 Jan 3.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Acute lymphocytic leukemia (ALL) is one of the subtypes of leukemia; it is one of the leading causes of malignancy and morbidity and childhood mortality. This study examined the dysregulation of DROSHA and its clinical implications in ALL. In the case-control investigation, we have included 140 samples, consisting of 70 peripheral whole blood samples diagnosed with ALL and 70 age and sex-matched healthy children, to assess the level of expression of DROSHA mRNA between two groups. Quantitative Real-Time PCR was used to establish the level of DROSHA gene expression in the patients and controls. The results revealed that DROSHA was overexpressed in patients compared with controls (p < 0.001). There were no major differences between DROSHA expression and demographic factors and clinicopathological parameters (p > 0.001). The finding of the study revealed that DROSHA expression in ALL patients is significantly up-regulated; which is suggesting that may be served as a critical role in the pathogenesis of ALL. Also, DROSHA will possibly be utilized as a novel therapeutic target for ALL patients within the future.
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http://dx.doi.org/10.1007/s11033-020-06072-4DOI Listing
January 2021

Analysis of clinical important of LncRNA-HOTAIR gene variations and ovarian cancer susceptibility.

Mol Biol Rep 2020 Oct 8;47(10):7421-7427. Epub 2020 Sep 8.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

LncRNAs are of functional long non-coding RNAs, which have been shown to be involved in critical pathways in cancer development. LncRNA-HOTAIR gene overexpression has been reported in several cancers. The aim of this study was to evaluate the associations between two variants of lncRNA-HOTAIR (rs1899663 G>T and rs4759314 A>G) gene polymorphisms and the risk of ovarian cancer (OC) susceptibility. We performed a case and control analysis on two hundred individuals consisting of 100 cases with OC and 100 women cancer-free in East Azerbaijan of Iranian population. To evaluate the association between two SNPs of lncRNA-HOTAIR with the risk of OC susceptibility used the polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) method. We revealed that two SNPs in the lncRNA-HOTAIR gene were significantly associated with the risk of OC. The dominant model of rs4759314 in lncRNA-HOTAIR (AA vs. GA/GG) showed a significantly increased risk with an OR of 10.036 (CI 2.253-44.712, P = 0.000); the recessive model of rs1899663 (TT vs. GT/GG) revealed a significantly increased risk with OR of 0.910 (CI 0.856-0.968; P = 0.002). In addition, our findings demonstrated that the 4759314G (OR 13.500; CI 3.146-57.940; P = 0.000) and 1899663T (OR 3.273; CI 1.433-7.475; P = 0.003) alleles are increased the risk of OC susceptibility. Our findings provide evidence that the specific genetic variants in lncRNA-HOTAIR gene may affect OC susceptibility in an Iranian population.
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http://dx.doi.org/10.1007/s11033-020-05797-6DOI Listing
October 2020

Negative associations between the has-miR-27a and hsa-miR-125a gene variations and prostate cancer susceptibility.

Mol Biol Rep 2020 Jun 28;47(6):4209-4214. Epub 2020 May 28.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Micro-RNAs are a novel class of single-strand non-coding RNAs, which play an important role in tumorigenesis. This investigation aimed to evaluate associations between the hsa-miR-27a (rs895819 T > C) and hsa-miR-125a (rs12976445 C > T) gene variations and the risk of PCa. In the present case-control investigation, we have obtained 300 peripheral blood samples, consisting of 150 subjects with PCa and 150 healthy men. The genotype frequencies of hsa-miR-27a and hsa-miR-125a gene variations evaluated using the PCR-RFLP technique. Based on our findings, the genotype frequencies did not reveal a significant association between the rs895819T and rs12976445C variations and the risk of PCa in the three heredity models (P > 0.05). Minor alleles C and T of rs895819 and rs12976445 did not show an increased risk of PCa progression (P > 0.05). Our findings indicated that the hsa-miR-27a and hsa-miR-125a gene variations are not increased PCa predisposition in the Iranian population.
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http://dx.doi.org/10.1007/s11033-020-05548-7DOI Listing
June 2020

Clinical Application of Long Non-Coding RNA-UCA1 as a Candidate Gene in Progression of Esophageal Cancer.

Pathol Oncol Res 2020 Jul 14;26(3):1441-1446. Epub 2019 Aug 14.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Esophageal cancer (EC) is known as one of the most prevalent gastrointestinal cancers, and results in the seventh highest number of cancer-relevant deaths. Long non-coding RNAs (lncRNAs) have substantial roles in several biological processes. LncRNA human urothelial carcinoma associated 1 (UCA1) is announced to be enhanced in multiple types of human cancers. This survey was carried out to identify the potential role of the lncRNA-UCA1 in the progression of EC. A case-control investigation was performed on 140 FFPE tissues of EC patients consisting of 70 cancerous tissues and 70 marginal tissues samples. To determine the lncRNA-UCA1 gene expression changes, quantitative reverse-transcription polymerase chain reaction (qRT-PCR) method was utilized. In addition, the associations between the lncRNA-UCA1 gene expression and clinicopathological parameters were assessed. Our findings revealed that the lncRNA-UCA1 was notably up-regulated in EC tissues compared to adjacent normal tissues (P < 0.05). LncRNA-UCA1 expression was substantially correlated to alcohol drinking (P = 0.008) and socioeconomic status (P = 0.001), while shared no correlation with age, hot drinking status and stage (P > 0.05). Our data indicated that the lncRNA-UCA1 play an important role in the progression of EC and may be considered as a candidate gene in the pathogenesis of EC patients.
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http://dx.doi.org/10.1007/s12253-019-00711-3DOI Listing
July 2020

Clinical important dysregulation of long non-coding RNA CCHE1 and HULC in carcinogenesis of cervical cancer.

Mol Biol Rep 2019 Oct 30;46(5):5419-5424. Epub 2019 Jul 30.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Genetic analysis has revealed that the lncRNAs acted in the critical pathways including cell growth, cell differentiation, and tumorigenesis. The purpose of the present survey was to evaluate the lncRNA-CCHE1 and lncRNA-HULC expression variations in subjects with cervical malignancy. In our case-control analysis planned on 100 formalin-fixed paraffin-embedded (FFPE) samples comprising 50 paraffin blocks of cervical cancerous and 50 paraffin blocks of non-tumors samples. We have calculated the lncRNA-CCHE1 and lncRNA-HULC gene expression alterations using a quantitative RT-PCR approach. Our results declared that the lncRNA-CCHE1 expression was considerably raised in tumorous matched to the non-tumorous samples (P = 0.001). Moreover, the lncRNA-HULC expression was not considerably modified between tumorous samples matched to the non-tumorous samples (P = 0.060). In extension, lncRNA-CCHE1 expression variation was correlated with the histological type (P = 0.001), tumor size (P = 0.001) and FIGO stage (P = 0.001). Our data advised that the lncRNA-CCHE1 gene may influence cervical malignancy progression, held as a prognostic marker and useful curative target. However, the character of lncRNA-HULC in carcinogenesis of cervical malignancy requires further analyses.
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http://dx.doi.org/10.1007/s11033-019-04996-0DOI Listing
October 2019

Up-regulation of long non-coding RNA-PCAT-1 promotes invasion and metastasis in esophageal squamous cell carcinoma.

EXCLI J 2019 17;18:422-428. Epub 2019 Jun 17.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Long non-coding RNA prostate cancer associated transcript-1 ncRNA (lncRNA-PCAT-1) plays an important role in the progression of prostate cancer. The present investigation was aimed to evaluate the potential roles of the gene expression changes in esophageal squamous cell carcinoma (ESCC) between Iranian population. In the case-control investigation, we have analyzed a total of 150 fresh tissue samples, compromising of 75 cancerous tissues and 75 adjacent normal tissues from patients with ESCC. We used quantitative Real-time polymerase chain reaction (qRT-PCR) to evaluate the gene expression levels in ESCC patients and correlation between the expression changes and clinical characteristics. Our findings showed that the gene was up-regulated in cancerous tissues compared with the adjacent non-cancerous tissues (p=0.0016). In addition, the results revealed a significant correlation between up-regulating of and hot liquid drinking (p =0.017). These findings offer the potential roles of in the pathogenesis of ESCC and may consider as a candidate prognostic biomarker for ESCC in an Iranian population.
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http://dx.doi.org/10.17179/excli2018-1847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635722PMC
June 2019

Nucleic acid vaccines for hepatitis B and C virus.

Infect Genet Evol 2019 11 17;75:103968. Epub 2019 Jul 17.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran. Electronic address:

Hepatitis B virus (HBV) and Hepatitis C virus (HCV) infections accounts for an important global health problem affecting over 250 million people all around the world. They can cause acute, transient and chronic infections in the human liver. Chronic infection of liver can lead to its failure or cancer. To deal with this problem, alternative approaches or strategies to inhibit these infections have already been started. DNA and mRNA-based vaccination will increase the efficacy and reduce toxicity in patients with Hepatitis B virus (HBV) and Hepatitis C virus (HCV) infections. Gene vaccines represent a promising alternative to conventional vaccine approaches because of their high potency, capacity for rapid development, low-cost manufacture and safe administration. MRNA-based vaccination is a method to elicit potent antigen-specific humoral and cell-mediated immune responses with a superior safety profile compared with DNA vaccines. Exploring the intricacies of these pathways can potentially help the researchers to explore newer vaccines. In this study, DNA and mRNA-based vaccination are introduced as an approach to treat Hepatitis B virus (HBV) and Hepatitis C virus (HCV) infections. DNA and mRNA-based vaccines as one of the most successful therapeutics are introduced and the clinical outcomes of their exploitation are explained.
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http://dx.doi.org/10.1016/j.meegid.2019.103968DOI Listing
November 2019

Association of single nucleotide polymorphism in hsa-miR-499 and hsa-miR-196a2 with the risk of prostate cancer.

Int Urol Nephrol 2019 May 13;51(5):811-816. Epub 2019 Mar 13.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Background: Prostate cancer (PCa) is one the most common malignant cancers in men. Micro-RNAs are a group of a noncoding small molecule, which plays critical roles in signalling pathways, metabolism, apoptosis and cancer development. The purpose of this study was to examine the possible association between the hsa-miR-499 (rs3746444) and hsa-miR-196a2 (rs11614913) gene polymorphisms with the risk of PCa.

Methods: The case-control investigation was performed on 300 peripheral blood samples, consisting of 150 patients with PCa and 150 healthy men without a family history of cancers. Genetic variations of hsa-miR-499 and hsa-miR-196a2 genes were assessed using the PCR-RFLP method.

Results: The T/T + TC/CC genotype frequencies showed a significant association between has-mir499 (rs3746444 T>C) gene polymorphism with the risk of PCa (p = 0.027; OR 1.780; 95% CI 1.030-3.113). The genotype frequencies of hsa-miR-196a2 gene did not reveal a statistically significant difference between two groups (p > 0.05).

Conclusion: Our findings supported that hsa-miR-499 gene polymorphism significantly increased susceptibility to PCa and may be considered as a potential prognostic biomarker in PCa patients. The findings suggested that no correlation between hsa-miR-196a2 gene polymorphism and PCa susceptibility in an Iranian population.
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http://dx.doi.org/10.1007/s11255-019-02099-0DOI Listing
May 2019

Evaluation of clinical utility of P53 gene variations in repeated implantation failure.

Mol Biol Rep 2019 Jun 11;46(3):2885-2891. Epub 2019 Mar 11.

Department of Biochemistry, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, 51664, Iran.

Repeated implantation failure (RIF) is one the most common causes which showed during IVF (In vitro fertilization) procedure. We aim to evaluate the possibility role of nucleotide changes in rs1042522 (R72P; G/C) and rs17878362 (Ins16bp; N/D) of P53 gene in patients with RIF. In a case-control survey, we have considered 200 women, consisting of 100 cases with RIF and 100 women with the normal pregnancy. In order to determine the genotype frequencies, we used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The NN + ND/DD (dominant) genotype frequencies of rs17878362 variant revealed a significant difference between two groups (P = 0.001; OR 2.652; 95% CI 1.480-4.754). In addition, the CC + GC/GG (recessive) genotype frequencies of rs1042522 (R72P) variant indicated a significant difference between two groups (P = 0.018; OR 3.353; 95% CI 1.169-9.616). Our findings suggested that rs1042522 (R72P; G/C) and rs17878362 (Ins16bp; N/D) of P53 gene polymorphisms could be a genetic predisposing factor for RIF.
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http://dx.doi.org/10.1007/s11033-019-04748-0DOI Listing
June 2019

Evaluation of prognostic usefulness of long noncoding RNA GAS5 and FAL1 in papillary thyroid carcinoma.

J Cell Biochem 2019 Feb 11. Epub 2019 Feb 11.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Genetic studies on cancers have revealed that lncRNA-GAS5 and lncRNA-FAL1 are overexpressed in some cancerous cells. The aim of the present investigation was to evaluate the roles of lncRNA-GAS5 and lncRNA-FAL1 gene expression changes in the diagnosis and prognosis of patients with papillary thyroid carcinoma (PTC). In a case-control investigation, we recruited a total of 140 formalin-fixed paraffin-embedded tissues of PTC, including 70 cancerous and noncancerous tissues. Quantitative real-time polymerase chain reaction was used to determine the lncRNA-GAS5 and lncRNA-FAL1 level of gene expression in the two tissue groups. The association between the clinicopathological characteristics of patients and the expression level of lncRNA-GAS5 and lncRNA-FAL1 was evaluated. Our findings revealed that the level of expression in the lncRNA-GAS5 and lncRNA-FAL1 genes was significantly upregulated in thyroid cancerous tissues (P < 0.003 and P < 0.040, respectively). The expression of lncRNA-GAS5 and lncRNA-FAL1 revealed a significant association with tumor node metastasis staging (P < 0.042 and P < 0.001, respectively). It seems that the lncRNA-GAS5 and lncRNA-FAL1 genes play an oncogenic role in PTC. The two genes have a significant potential prognostic value and may likely be used as novel therapeutic targets for PTC patients in the future.
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http://dx.doi.org/10.1002/jcb.28425DOI Listing
February 2019

Evaluation of the potential clinical prognostic value of lncRNA-BANCR gene in esophageal squamous cell carcinoma.

Mol Biol Rep 2019 Feb 14;46(1):991-995. Epub 2018 Dec 14.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Esophageal squamous cell carcinoma (ESCC) is the seventh most common cause of cancer death in worldwide. LncRNA-BANCR is a long non-coding RNA (lncRNA), which has made new windows in cancer investigations. The aim of this survey was to determine the lncRNA-BANCR gene expression changes in patients with ESCC. In case-control investigation was performed on 150 formalin fixed-paraffin embedded tissues (75 cancerous and 75 non-cancerous tissues) of ESCC patients. The lncRNA-BANCR gene expression alteration was assessed by Real-Time PCR technique. Our findings revealed that lncRNA-BANCR gene expression was increased significantly in tumor tissues compared with the non-cancerous tissues (p = 0.0025). In addition, lncRNA-BANCR gene expression changes was positively associated with the lymph node metastasis (p = 0.013), tumor differentiation (p = 0.019) and tumor stage (p = 0.017). Our results suggest a possible role of lncRNA-BANCR in proliferation of esophageal tissues and may be considered as a potential prognostic value for ESCC metastasis.
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http://dx.doi.org/10.1007/s11033-018-4556-2DOI Listing
February 2019

Association of the study between LncRNA-H19 gene polymorphisms with the risk of breast cancer.

J Clin Lab Anal 2019 Mar 28;33(3):e22826. Epub 2018 Nov 28.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

Background: The H19 is a maternally expressed imprinted gene transcribing a long noncoding RNA (lncRNA), which has previously been reported to be involved in tumorigenesis and cancer progression. The aim of this study was to evaluate the associations between two lncRNA-H19 (rs3741219 T>C and rs217727 C>T) gene polymorphisms with the risk of breast cancer (BC).

Methods: In a case-control investigation, we evaluated 150 BC patients and 100 cancer-free subjects in East Azerbaijan Province of Iran. To assess two gene polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used.

Results: The genotype frequencies of two lncRNA-H19 (rs217727 C>T and rs3741219 T>C) gene polymorphisms TT + TC/CC and CC + CT/TT have not shown a statistically significant association with the risk of BC (P = 0.065; OR = 0.967; 95% CI, 0.938-0.996) and (P = 0.510; OR = 1.583; 95% CI, 0.399-6.726), respectively. In addition, our findings revealed a significant differences in allele frequencies in lncRNA-H19 rs217727 C>T polymorphism between groups (P = 0.033; OR = 1.985; 95% CI, 1.048-3.761).

Conclusion: Our findings suggested that rs217727 C>T polymorphism may be involved in the pathogenesis of BC, whereas rs3741219 T>C variation may not be involved in the genetic background of BC in Iranian.
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http://dx.doi.org/10.1002/jcla.22826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6818618PMC
March 2019

Long non-coding RNAs and cervical cancer.

Exp Mol Pathol 2019 02 22;106:7-16. Epub 2018 Nov 22.

Department of Molecular Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran. Electronic address:

Cervical cancer is determined as the second highest number of deaths factor in female cancers. Here is a need to find new biomarkers for detection and preliminary prognosis, metastasis. To find new treatment to enhance the survival of cervical cancer patients, pivotal actions are necessitated to be implemented. Long non-coding RNAs (lncRNAs) appear to be the crucial modulators in various processes and critically influence the oncogenesis. The commencement and general review actions of the following lncRNAs HOTAIR, H19, XIST, CCHE1, EBIC, MALAT1, ANRIL, LET, NEAT1, BLACAT1, UFC1, SNHG16 and SNHG20 are focused in this review article. Roles of the lncRNAs in cervical cancer in terms of prognosis and tumor progression, invasion and metastasis, apoptosis, and radio-resistance are pointed out. In this review the utilization of lncRNAs as biomarkers in cervical cancer prognosis for metastasis is discussed. An overview of this review will be useful for selection of biomarkers in diagnosis, prognosis, and targeted therapy of cervical cancer in the future.
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http://dx.doi.org/10.1016/j.yexmp.2018.11.010DOI Listing
February 2019

Molecular pathology diagnosis of diffuse large B cell lymphoma using BIOMED-2 clonal gene rearrangements.

Authors:
Saeid Ghorbian

Ann Diagn Pathol 2017 Aug 27;29:28-31. Epub 2017 Apr 27.

Department of Molecular Biology, Ahar Branch, Islamic Azad University, Ahar, Iran. Electronic address:

Background: Clonality testing for immunoglobulin gene rearrangement analysis could be implemented effectively as a useful technique for conventional diagnosis of lymphoma. The European Biomedicine and Health Concerted Action Project BMH4-CT98-3936 (BIOMED-2) have been suggested a gold standard method to clonality detection.

Objectives: We tested empirically clonality rearrangements of IGH and incomplete IGH D-J, on formalin-fixed, paraffin embedded (FFPE) tissue of patients with diffuse large B cell lymphoma (DLBCL).

Material And Methods: This appraisal was conveyed on 50 sequential FFPE specimens of patients with DLBCL. We carried out a standard multiplex PCR and heteroduplex techniques to analysis of IGH and incomplete IGH D-J clonal gene rearrangements.

Results: In our investigation, we were identified a total positive monoclonality of 96% (48/50) for IGH and 58% (29/50) for incomplete IGH D-J. The percentage of positive clonality was detected in three frameworks (FRI, II, III) of IGH revealed 50% (25/50), 28% (14/50) and 18% (9/50) to FRIII, FRII and FRI, respectively. Analysis of incomplete IGH D-J showed 34% (17/50) and 24% (12/50) rates of positive clonality for DH-JH and DH-JH, respectively. In the 4% (2/50) of cases was no detected any gene rearrangements in both of IGH and incomplete IGH D-J genes.

Conclusions: Analysis of molecular clonality gene rearrangements on FFPE tissues disclosed that using BIOMED-2 protocols, could be improvement significant clinicopathological diagnosis of DLBCL. Clonality testing is believable that to suggest as a helpful and credible technique for clonality detection in the routine diagnosis of DLBCL and other lymphoproliferative disorders.
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http://dx.doi.org/10.1016/j.anndiagpath.2017.04.008DOI Listing
August 2017

Clinical Applications of Next-Generation Sequencing in Cancer Diagnosis.

Pathol Oncol Res 2017 Apr 8;23(2):225-234. Epub 2016 Oct 8.

Department of Molecular Biology, Ahar Branch, Islamic Azad University, Ahar, Iran.

With the advancement and improvement of new sequencing technology, next-generation sequencing (NGS) has been applied increasingly in cancer genomics research fields. More recently, NGS has been adopted in clinical oncology to advance personalized treatment of cancer. NGS is utilized to novel diagnostic and rare cancer mutations, detection of translocations, inversions, insertions and deletions, detection of copy number variants, detect familial cancer mutation carriers, provide the molecular rationale for appropriate targeted, therapeutic and prognostic. NGS holds many advantages, such as the ability to fully sequence all types of mutations for a large number of genes (hundreds to thousands) and the sensitivity, speed in a single test at a relatively low cost compared to be other sequencing modalities. Here we described the technology, methods and applications that can be immediately considered and some of the challenges that lie ahead.
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http://dx.doi.org/10.1007/s12253-016-0124-zDOI Listing
April 2017

Detection of t(8;14) c-myc/IgH gene rearrangement by long-distance polymerase chain reaction in patients with diffuse large B-cell lymphoma.

Hematol Oncol Stem Cell Ther 2016 Dec 23;9(4):141-146. Epub 2016 Jun 23.

Connective Tissue Research Center, Department of Medical Genetics, Faculty of Medicine and Tabriz Genetic Analysis Centre (TGAC), Tabriz University of Medical Sciences, Daneshgah Street, 516661557, Tabriz, Iran. Electronic address:

Objective/background: Specific chromosomal translocations are found in human leukemias and lymphomas. These translocations are closely related to particular histological and immunological phenotypes. In Burkitt's lymphoma, translocation t(8;14)(q24;q32), which involves the c-myc gene (8q24) and the immunoglobulin heavy-chain (IgH) locus (14q32), accounts for 90-95% of all chromosomal translocations. This translocation can be found in 2-5% of diffuse large B-cell lymphoma (DLBCL). Long-distance polymerase chain reaction (LD-PCR) assays, which can identify oncogene/Ig gene rearrangement, can detect these fusion genes. The objective of this study was to detect t(8;14) c-myc/IgH gene rearrangement by LD-PCR in patients with DLBCL.

Methods: In this study, 54 DLBCL cases were tested by LD-PCR with specific primers. LD-PCR was used for two breakpoints in both the IgH gene (joining region and γ switch region) and the myc gene (Exons 2 and 3).

Results: As much as 1.85% of the samples were positive for the γ constant region and Exon 2 of the myc gene.

Conclusion: LD-PCR can be used for the detection of t(8;14) c-myc/IgH gene rearrangement in patients with DLBCL.
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http://dx.doi.org/10.1016/j.hemonc.2016.05.006DOI Listing
December 2016

Genetic susceptibility to deep venous thromboembolism: the roles of inherited thrombophilia polymorphisms.

Blood Coagul Fibrinolysis 2016 Apr;27(3):308-12

aBiotechnology Research Center, Tabriz University of Medical Sciences, Tabriz bDepartment of Molecular Biology, Ahar Branch, Islamic Azad University, Ahar cDepartment of Genetics and Medical Biotechnology, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Islamic Republic of Iran.

Recently much attention has been paid to the possibly considerable role of the thrombophilic gene polymorphisms in the pathogenesis of deep venous thromboembolism (DVT). However, the reported results are controversial. Hence, this study aimed to disclose the association between factor VII (FVII) 10976G/A, angiotensin-converting enzyme (ACE; intron 16 I/D), glycoprotein Ia (GPIa) 807C/T, tissue-type plasminogen activator (t-PA; intron 8 D/I) and tissue-factor pathway inhibitor 536C/T polymorphisms and DVT. We investigated these gene polymorphisms in 693 study participants including 193 patients who showed clinical symptoms of DVT and 500 healthy individuals without both personal and family histories of thromboembolic disorders. Genotyping was performed using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. Comparison of genotypes distribution revealed that the FVII 10976G/A polymorphism was significantly related with DVT (P < 0.05), whereas there was no association between the ACE (intron 16 I/D), GPIa807C/T, t-PA (intron 8 D/I) and tissue-factor pathway inhibitor 536C/T gene polymorphisms and DVT (P > 0.05). In addition, the prevalence of homozygote genotype and mutant allele for FVII 10976G/A polymorphism was significantly higher in cases compared with controls (P < 0.05). Taken together, our data provide evidence to support the hypothesis that FVII 10976G/A polymorphism may be associated with a predisposition to DVT.
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http://dx.doi.org/10.1097/MBC.0000000000000430DOI Listing
April 2016

Molecular Analysis of IGH and Incomplete IGH D-J Clonality Gene Rearrangements in Hodgkin Lymphoma Malignancies.

Clin Lab 2015 ;61(8):951-5

Background: We evaluated molecular clonality in immunoglobulin heavy chain (IGH) and incomplete IGH D-J genes for improvement of clinical diagnosis of Hodgkin's lymphoma (HL). We applied BIOMED-2 protocols in HL cases, which were previously approved by clonality detection in non-Hodgkin lymphoma (NHL) cases.

Methods: We investigated 50 consecutive FFPE samples of classical HL (cHL) patients to assess IGH and IGH D-J clonal gene rearrangements by multiplex PCR protocols, which were provided by the European Biomedicine and Health (BIOMED-2) Concerted Action Project BMH4-CT98-3936.

Results: In the present study, there was a monoclonality of 86% (43/50) including a clonality of 74% (37/50) for IGH and a clonality of 42% (21/50) in IGHD-J. In addition, a lack of clonality was detected in 14% (7/50) of cases. Frequent gene rearrangements were detected in framework (FR) III (54%) and FRII (20%), whereas no clonality was seen in FRI. Furthermore, a monoclonality of 28% and 14% was detected in the DH(1-6)-JH and DH(see symbol)-JH gene rearrangements, respectively.

Conclusions: The present study suggests that the complete IGH and incomplete IGH D-J clonality gene rearrangement assays using BIOMED-2 protocols could be considered a valuable method for detection of clonal gene rearrangements, especially in HL cases.
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http://dx.doi.org/10.7754/clin.lab.2015.141139DOI Listing
October 2015

Evaluation of IGK and IGL molecular gene rearrangements according to the BIOMED-2 protocols for clinical diagnosis of Hodgkin lymphoma.

Hematology 2016 Apr 17;21(3):133-7. Epub 2015 Jul 17.

c Biotechnology Research Center , Tabriz University of Medical Sciences , Iran.

Background: Although the analysis of molecular clonality rearrangements of the immunoglobulin light chains (IGK and IGL) is an alternative approach for diagnosis of B cell non-Hodgkin lymphomas (NHLs) using BIOMED-2 protocols, NHLs have not been extensively confirmed for Hodgkin lymphoma (HL) cases. We evaluated BIOMED-2 protocols in HL cases, which have been suggested previously as gold standard method for molecular clonality analysis on formalin fixed, paraffin-embedded (FFPE) tissue in NHL patients.

Methods: We recruited 50 consecutive FFPE tissues of HL samples to evaluate IGK and IGL clonality gene rearrangements using BIOMED-2 and Heteroduplex methods.

Results: Our findings revealed a total of 94% (47/50) positive clonality, which consisted of 70% (35/50) for IGK and 44% (22/50) for IGL. In three cases, clonality was not detected in any of the immunoglobulin gene segments.

Conclusions: Analysis of clonality gene rearrangements in IGK and IGL genes using BIOMED-2 protocols could be implemented as a valuable method for improving clonality detection rate in HL cases and sensitivity (94%) and accuracy of HL diagnosis similar to that of the NHL samples will be increased.
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http://dx.doi.org/10.1179/1607845415Y.0000000035DOI Listing
April 2016

BCL-1 Gene Rearrangements in Iranian Non-Hodgkin Lymphoma Patients.

Glob J Health Sci 2016 8 1;8(8):53396. Epub 2016 Aug 1.

Department of Basic Science, East Azarbayjan Science and Research Branch, Islamic Azad University, Tabriz, Iran Department of Basic Science, Tabriz Branch, Islamic Azad University, Tabriz, Iran.

In the present study, our aim was to assess the incidence of BCL-1 gene rearrangements in formalin-fixed paraffin embedded (FFPE) tissue in patients with non-Hodgkin lymphomas (NHL). The BIOMED-2 protocol was applied to assess the BCL-1 gene rearrangements in NHL patients. PCR amplification was carried out on FFPE in 100 patients with B-cell lymphoma including 89 cases with diffused large B-cell lymphoma (DLBCL) (15 cases under 18 years old) and 11 cases with mantle cell lymphoma (MCL). Out of the 100 patients, 19 cases (19%) were identified to have concurrent translocation involving BCL-1. The significant association was seen between BCL-1 gene rearrangements and the lymphomas in patients older than 55 years (P<0.05). Out of 100 cases, 80 cases were positive and 20 cases were negative regarding CD20. No significant association was found between DLBCL lymphoma in patients under 18 years old and BCL-1 gene rearrangements (P>0.05). In addition, the positive and negative expressions of LCA/CD45 marker were 76% (76/100) and 26% (26/100), respectively. Our findings revealed that BCL-1 gene rearrangement assays using BIOMED-2 protocol can be considered as a valuable approach in detection of the lymphomas.
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http://dx.doi.org/10.5539/gjhs.v8n8p108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016351PMC
August 2016

Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis.

J Neurol Sci 2014 Oct 28;345(1-2):220-3. Epub 2014 Jul 28.

De La Salle Health Science Institute, College of Medicine, Cavite, Philippines. Electronic address:

Background And Purpose: Multiple sclerosis (MS) is an autoimmune-mediated inflammatory and debilitating disease of the central nervous system. Several investigations have suggested that the mitochondrial DNA encoded subunits of complex I gene variations are involved in the progression of MS. In this study, we investigated the possible association between mitochondrial complex I gene variations and MS in a Filipino population.

Material And Methods: A total of 300 individuals were included in the present study, two-hundred patients with MS clinical symptoms, and one-hundred healthy subjects without MS clinical features. We amplified target genes of mtDNA using polymerase chain reaction technique (PCR), and sequenced these to evaluate mitochondrial complex I gene variations.

Results: We found nine variations (Nt 4216 T>C, Nt 5153 A>G, Nt 10142 C>T, Nt 11353 T>C, Nt 11935 T>C, Nt 12062 C>T, Nt 13042 G>A, Nt 13708 G>A and Nt 14179 G>A) in mtDNA-encoded complex I subunit genes. Our results showed that the prevalence of ND1, ND2, ND3, ND4 and ND5 gene variations was significantly higher in patients than in healthy controls (P<0.0001). Whereas, the frequency of Nt 14179 G>A variation in ND6 gene was significantly higher in the control group compared with the patients (P<0.0001).

Conclusion: Taken together our data supports a strongly positive association between mitochondrial complex I gene variations and MS pathogenesis in a Filipino population.
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http://dx.doi.org/10.1016/j.jns.2014.07.051DOI Listing
October 2014

Cell-free fetal DNA: new perspective and clinical implication in diagnosis of polycystic kidney diseases.

Ren Fail 2014 May 6;36(4):661. Epub 2014 Feb 6.

Department of Genetics and Medical Biotechnology, Faculty of Medicine, Hormozgan University of Medical Sciences , Bandar Abbas , Iran .

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http://dx.doi.org/10.3109/0886022X.2014.883909DOI Listing
May 2014

Molecular dynamic simulation: a powerful method for prediction of apoptotic pore formation.

Cell Biochem Biophys 2014 Apr;68(3):637-8

Department of Cellular and Molecular Biology, Faculty of Science, Azarbaijan Shahid Madani University, Tabriz, Iran.

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http://dx.doi.org/10.1007/s12013-013-9747-9DOI Listing
April 2014

Micro-RNAs in IVF outcome.

Indian J Hum Genet 2013 Apr;19(2):273

Department of Biology, Bonab Branch, Islamic Azad University, Bonab, Iran.

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http://dx.doi.org/10.4103/0971-6866.116110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758740PMC
April 2013

The association between thrombophilic gene mutations and recurrent pregnancy loss.

J Assist Reprod Genet 2013 Oct 29;30(10):1353-9. Epub 2013 Aug 29.

Department of Cellular and Molecular Biology, Faculty of Science, Azarbaijan Shahid Madani University, Tabriz, Iran.

Purpose: To determine whether the Factor V (1691G/A), Factor V HR2 (4070A/G), Prothrombin (20210G/A), PAI-1 (-675 I/D, 5G/4G), ACE (intron 16 I/D), Factor VII (Gln353Arg), Factor XIII (Val34Leu), β-fibrinogen (-455G/A), Glycoprotein Ia (807C/T), tPA (intron 8 D/I) gene mutations could be risk factors for recurrent pregnancy loss (RPL).

Methods: Genotyping of thrombophilic gene mutations were carried out by amplification Refractory Mutation System-PCR (ARMS-PCR) method after DNA extraction.

Results: We found that the mutant allele frequencies of Factor V (1691G/A), Factor V HR2 (4070A/G), Prothrombin (20210G/A), PAI-1 (-675 I/D, 5G/4G), Factor XIII (Val34Leu) and β-fibrinogen (-455G/A) were more seen in the case group compared with the healthy control; However, the difference between the two group is not statistically significant (p > 0.05). Whilst the mutant allele frequencies of other studied genes were lower in the case in comparison to the fertile control women (p > 0.05).

Conclusion: Taken together, our data has shown that the prevalence of thrombophilic gene mutations was similar in women with RPL and healthy controls. Therefore, it appears that further studies on large-scale population and other genetic variants will be needed to conclusively find candidate genes for RPL unknown etiology in the future.
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http://dx.doi.org/10.1007/s10815-013-0071-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824849PMC
October 2013

Non-Invasive Detection of Esophageal Cancer using Genetic Changes in Circulating Cell-Free DNA.

Avicenna J Med Biotechnol 2012 Jan;4(1):3-13

Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.

Cell free DNA (cfDNA) is a genetic biomarker that is present in serum or plasma in high concentration in many types of cancer. Identification of circulating cancer related DNA molecules in serum or plasma is a non-invasive tool for early diagnosis and prognosis in many cancer patients. For this review, study selection and data extraction were performed by the authors. Detection of point mutations, microsatellite alterations, DNA hypermethylations and losses of heterozygosity in circulating cell free DNA have been characterized in esophagus cancer. Application of circulating cell free DNA as a biomarker, provide the best opportunity for constructing non-invasive tests for early detection, prognosis and management of cancer patients, after therapy in many types of cancer.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558201PMC
January 2012

Micro-RNAs, next-generation molecular markers in male infertility field.

Authors:
Saeid Ghorbian

Transl Androl Urol 2012 Dec;1(4):245-6

Department of Biology, Bonab Branch, Islamic Azad University, Bonab, Iran.

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http://dx.doi.org/10.3978/j.issn.2223-4683.2012.11.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708155PMC
December 2012

Routine diagnostic testing of Y chromosome deletions in male infertile and subfertile.

Authors:
Saeid Ghorbian

Gene 2012 Jul 2;503(1):160-4. Epub 2012 May 2.

Male factor infertility elucidated about half the couple of infertility and in around 50% of cases, its etiology remains unknown. The aim of this study was to investigate a predisposing genetic background for Yq deletions and male infertility and effectiveness of molecular genetic approaches have uncovered several etiopathogenetic factors, such as microdeletions of Yq chromosome. The Y chromosome microdeletions removing the azoospermia factor (AZF) regions, which are most common molecular genetic causes of oligospermia or azoospermia. However, with the analysis of Yq deletions, we are able to obtain a better understanding of the clinical significance of genetic anomaly and to the identifying of fertility candidate genes in the AZF regions. Molecular genetic approaches, becomes a routine diagnostic test, that provides an etiology for spermatogenic disturbances, and prognosis for testicular sperm retrieval according to the type of deletion.
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http://dx.doi.org/10.1016/j.gene.2012.04.079DOI Listing
July 2012
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