منصور صالحی
استاد گروه ژنتیک، دانشکده پزشکی و آزمایشگاه ژنتیک پزشکی، مرکز آموزشی درمانی الزهراء (س)، دانشگاه علوم پزشکی اصفهان، اصفهان، ایران.
[ 1 ] - بررسی آزمایشات غربالگری پیش از تولد مادران باردار و مقایسه آن با کاریوتیپ جنین
مقدمه: با توجه به شیوع نسبتاً زیاد سندرم داون (یک در هر 700 زایمان)، روشهای گوناگون غربالگری برای شناسایی زنان باردار ابداع شده است. در صورتی‌که نتایج تست غربالگری مثبت باشد، تست‌های ژنتیک پیش از تولد توصیه می‌شود. مطالعه حاضر با هدف بررسی آزمایشات غربالگری و مقایسه آن با نتایج کاریوتیپ جنین انجام شد. روش‌کار: در این مطالعه مقطعی، توصیفی و تحلیلی، نتایج تست‌های غربالگری و آزمایشات ژنتیک 1009 ز...
[ 2 ] - The Effect of Plasma Exchange on the Expression of FOXP3 and RORC2 in Relapsed Multiple Sclerosis Patients
Background: Lack of sufficient information on the mechanism of plasma exchange (PE) therapy in multiple sclerosis (MS), has limited this treatment to individual patients with severe relapses who have been refractory to other treatments. This is while PE is used very successfully as a first-line standard treatment in many other neuro-immune disorders. Recent data suggest that Treg/Th17 counterb...
[ 3 ] - Distribution of HLA-B*27 Alleles in Pa-tients with Ankylosing Spondylitis in Iran
Background: HLA-B*27 is strongly associated with ankylosing spondylitis (AS). It represents a family of alleles that differ among ethnic groups. Objective: The aim of this study was to determine the distribution of HLA-B*27 alleles in AS patients and healthy controls in Isfahan (Iran). Methods: Sixty AS patients and 430 healthy blood donors were selected. All subjects were HLA-B*27 positive by ...
[ 4 ] - Detection of Toxoplasma Parasitemia by PCR: Does it Correlate with IgG and IgM Antibody Titers?
Background: Toxoplasmosis is a zoonotic disease with high seroprevalence worldwide. Several immunological methods have been described for diagnosis of toxoplasmosis. Objective: To determine the parasitemia period in patients infected with toxoplasma using PCR and comparing serological data with molecular results. Methods: 154 serum samples from patients with toxoplasmosis were examined. Presenc...
[ 5 ] - Detection of HBV DNA in HBsAg Negative Normal Blood Donors
Background: The risk of infection by transfusion-transmitted viruses has been reduced remarkably. However, a zero-risk blood supply is still desirable. The screening for antibody to HBc (anti-HBc) has been shown as an alternative test for the detection of HBV infection. Objective: The main aim of this study was to evaluate HBV infection markers and the potential value of anti-HBc testing of blo...
[ 6 ] - HBB FSC 36-37 (-T) Gene Mutation Detection in Carriers of Thalassemia Minor Using High Resolution Melting Analysis
Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...
[ 7 ] - MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21
This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screeni...
[ 8 ] - Down Syndrome: Current Status, Challenges and Future Perspectives
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...
[ 9 ] - Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran
Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate common mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary ped...
[ 10 ] - Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
[ 11 ] - رمزگشایی ژنتیک زبان و تکلم: دیدگاه ژنتیکی بر عناصر عملکردی
زمینه و هدف: مدت زمان مدیدی است که تصور می‌شود توانایی انسان برای کسب قابلیت زبان توسط ساختار ژنتیکی او کد می‌شود. با این حال، تنها به تازگی شواهد ژنتیکی متعددی برای اثبات اساس ژنتیکی احتمالی ِزبان در دسترس است. در طول دهه گذشته، واریانت‌های ژنتیکی مختلفی شناسایی شده‌اند که ممکن است افراد را به جنبه‌های مختلف اختلالات زبان مستعد کنند. اختلالات زبان و گفتار طیف گسترده‌ای از شرایط با فنوتیپ‌های هت...
[ 12 ] - The Effect of Dracocephalum kotschyi Alcoholic Extract on the BCL2 and BAX expression in SKBR3 Cell Line
Background: Breast cancer is the most prevalent malignancy among women in the worldwide and the outbreak in Iranian women is growing. Iranian patients with breast cancer are younger than their Western counterparts. Dracocephalum kotschyi is a wild-growing flowering plant belonging to the family Labiatae and found in Iran. This plant has been applied in Iran folk medicine. The aim of this study ...
[ 13 ] - An Effective Concentration of 5-Aza-CdR to Induce Cell Death and Apoptosis in Human Pancreatic Cancer Cell Line through Reactivating RASSF1A and Up-Regulation of Bax Genes
Background: Promoter hyper-methylation of tumor suppressor genes is a common event that occurs in cancer. As methylation is a reversible modification, agents capable of reversing an abnormal methylation status should help to combat cancer. 5-Aza-CdR is a DNA methyl-transferase inhibitor. The present study aimed to evaluate the effect of 5-Aza-CdR on the proliferation of human pancreatic cancer ...
[ 14 ] - Investigation of the Impact of Foretinib, an Oral Multikinase, on AURKA and AURKB Expression in T98 Glioblastoma Cell Line
Background/Objective: Gliomas are the most common of the primary brain tumors and accounted for more than 40% of all central nervous system (CNS) tumors. Glioblastoma (GBM) remains one of the most fatal human malignancies because of its high angiogenic. Foretinib is an oral multikinase inhibitor that represented antitumor activity in clinical studies. AURKA and AURKB genes have been shown to b...
[ 15 ] - Expression Profiles of miR-93 and miR-330 in Iranian Patients with Chronic Lymphocytic Leukemia
Background and Aims: Chronic lymphocytic leukemia (CLL) is the most common adult human leukemia. MicroRNAs (miRNAs) are small non-coding RNAs that regulate gene expression. Research has shown that in CLL, microRNAs can have function as oncogenes or tumor suppressors. Some studies demonstrated that the expression of microRNA-93 (miR-93) and microRNA-330 (miR-330) have been changed in several can...
[ 16 ] - Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...
[ 17 ] - Altered Expression of Circulating miR-377 and miR-98 in Relapsing-remitting Multiple Sclerosis
Background and Aims: Multiple sclerosis (MS) has been assumed to be a complex and indecipherable disease, and poorly understood with regard to etiology which is characterized by relapses and remissions. The expression of microRNAs (miRNAs) is known to be associated with the regulation of immune responses. Recently, investigations have reported that miRNA expression profiles in blood cells becom...
[ 18 ] - Investigation of the Relationship between Genetic Polymorphisms in GSTM1 and GSTT1 Genes and Susceptibility to Lung Functional Abnormalities in Workers Exposed to Air Pollutants at Isfahan Steel Plant
Introduction: Gaseous air pollutants can cause oxidative stress, which can lead to lung damage by inducing inflammation. Polymorphisms in the glutathione S-transferase (GST) gene are involved in the pathogenesis of many diseases, including lung disease. Two glutathione S-transferase Mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) genes belong to this family, in which deletions occur ...
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