دکتر هاله اخوان نیاکی,
[ 1 ] - فراوانی جهش‌های نقطه‌ای شایع ژن آلفاگلوبین در مراجعین به بیمارستان کودکان امیرکلا بابل (88-1384)
زمینه و هدف : آلفاتالاسمی یکی از اختلالات شایع هموگلوبین می‌باشد. با توجه به ناهمگونی جهش‌ها و پیچیدگی فنوتیپ در آلفاتالاسمی، تعیین دقیق نوع جهش زوجین، تنها روش برای تعیین وضعیت جنین در رابطه با تالاسمی است. حذف‌های شایع در این ژن برای زوجین مشکوک به طور روتین مورد بررسی قرار می‌گیرد؛ اما جهش‌های نقطه‌ای به‌دلیل نداشتن اطلاعات کافی در مورد فراوانی آنها کمتر مورد توجه قرار می‌گیرد. این مطالعه به...
[ 2 ] - جهش‌های شایع ژن CFTR در بیماران فیبروز کیستی استان مازندران
زمینه و هدف : فیبروز کیستی شایع‌ترین بیماری ارثی در جمعیت سفیدپوستان می‌باشد که در اثر جهش در پروتئین تنظیم کننده عبور غشایی فیبروز کیستی (CFTR) رخ می‌دهد. نوع و توزیع جهش‌ها در بین کشورها و گروه‌های نژادی بسیار متغیر است. این مطالعه به منظور شناسایی جهش‌های دخیل در ایجاد بیماری فیبروز کیستی در استان مازندران انجام گردید. روش بررسی: در این مطالعه توصیفی 30 بیمار غیرخویشاوند مبتلا به فیبروز کیست...
[ 3 ] - Analysis of Two CDKN2B-AS Polymorphisms in Relation to Coronary Artery Disease Patients in North of Iran
Coronary artery disease (CAD) including myocardial infarction (MI) as its complication, is one of the most common heart diseases worldwide and also in Iran, with extremely elevated mortality. CAD is a multifactorial disorder. Twin and family studies at different loci have demonstrated that genetic factors have an important role in the progression of CAD. Many studies have reported a significant...
[ 4 ] - The Genotoxic and Cytotoxic Effects of Bisphenol-A (BPA) in MCF-7 Cell Line and Amniocytes
Bisphenol-A (BPA) is an industrial xenoestrogen used widely in our living environment. Recently, several studies suggested that BPA has destructive effects on DNA and chromosomes in normal body cells via estrogen receptors (ER). Therefore, BPA could be considered as an important mediator in many diseases such as cancer. However, there are still many controversial issues which need clarification...
[ 5 ] - RNA Extraction from Animal and Human\'s Cancerous Tissues: Does Tissue Matter?
The reliability of gene expression profiling based technologies and methods to find transcriptional differences representative for the original samples is influenced by the quality of the extracted RNA. Hence, RNA extraction is the first step to investigate the gene expression and its function. Consequently, the quality of extracted RNA is really significant. Correspondingly, this research was ...
[ 6 ] - Human Fibroblast Switches to Anaerobic Metabolic Pathway in Response to Serum Starvation: A Mimic of Warburg Effect
Fibroblasts could be considered as connective tissue cells that are morphologically heterogeneous with diverse functions depending on their location and activity. These cells play critical role in health and disease such as cancer and wound by Production of collagen, fibronectin, cytokines and growth factors. Absence of insulin and other growth factors in serum deprivation condition and similar...
[ 7 ] - Total Phenolics and Flavonoids Contents of Aqueous Extract of Stinging nettle and In Vitro Antiproliferative Effect on Hela and BT- 474 cell lines
Phenolic compounds including flavonoids and phenolic acids are plants secondary metabolites. Due to their ability to act as antioxidant agents, there is a growing interest to use those components in traditional medicine for cancer prevention or treatment. The aim of this study was to measure the amounts of total phenolics and flavonoids as well as anti-proliferative effect of aqueous extract of...
[ 8 ] - Radioadaptive Response in Human Lymphocyte Cells
The adaptive response (AR) is a phenomenon by which cells exposure to sublethal doses of DNA-damaging agents (non-mutagenic dose of chemical or radiation), known as conditioning treatment (CT), leads to increased resistance to a subsequent exposure to a higher dose of the same or other agents, known as challenge treatment (CR). The adaptive response (AR) induced by radiation in human lymphocyte...
[ 9 ] - Is Radiosensitivity Associated to Different Types of Blood Groups? (A cytogenetic study)
Many biological factors affect radiosensitivity. In this study, radiosensitivity among the different blood groups was investigated. Peripheral blood sample of 95 healthy people were divided into two parts. One part was irradiated with 2 Gy Co-60 gamma rays and the second one was considered as control. Then all the samples were studied by cytokinesis-blocked micronucleus assay (CBMN assay). Our ...
[ 10 ] - Hematologic Features of Alpha Thalassemia Carriers
Alpha thalassemia (α-thal) is relatively common worldwide. Most carriers are defective in either one or two alpha globin genes out of four functional ones, with deletions being more common than point mutations. The hematologic features are very important for the selection of the appropriate molecular tests while determining the genotype. The aim of this study was to compare hematologic features...
[ 11 ] - Analysis of c.3369+213TA[7-56] and D7S523 microsatellites linked to Cystic Fibrosis Transmembrane Regulator.
Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting principally respiratory and digestive system . It is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The aim of this study was to determine the extent of repeat numbers and the degree of heterozygosity for c.3499+200TA(7_56) and D7S523 located in intron 17b and 1 cM proximal to t...
[ 12 ] - Impact of Genetic Variants in Mir-122 Gene and its Flanking Regions on Hepatitis B Risk
MicroRNAs are small non coding RNAs that are involved in gene expression regulation. Mir-122 was reported to inhibit hepatitis B virus (HBV), but little is known about the role of mir-122 polymorphisms on HBV infection development. This present study aimed to investigate the association between single nucleotide polymorphisms (SNPs) in mir-122 gene region with HBV infection. Study cases were HB...
[ 13 ] - Antioxidant and Cytotoxic Effect of Aqueous and Hydroalcoholic Extracts of the Achillea Millefolium L. on MCF-7 Breast Cancer Cell Line
Breast cancer is the second main cause of death among women. The use of medicinal plants has been common in many countries since ancient times. The aim of this study was to evaluate the antioxidant and anti-proliferative potential of Achillea millefolium L. The antioxidant activity of the aqueous and hydroalcoholic extracts of Achillea millefolium L. leaf and flower was measured by DPPH and FRA...
[ 14 ] - Injectable Estradiol Valerate, as a Substitute for Estradiol Pellets in Breast Cancer Animal Model
The ability to maintain and study human tissues in in-vivo environment has proved to be a valuable tool in breast cancer research for several decades. The most widely tissues have been xenografts established human breast cancer cell lines into athymic nude mice. The aim of this study was to provide a new accurate and affordable method for the establishment of breast cancer xenograftin nude mice...
[ 15 ] - Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...
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