نتایج جستجو برای: c.180g>a mutation

تعداد نتایج: 291413  

Journal: :iranian journal of basic medical sciences 0
abdolvahab moradi infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran sareh zhand infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran amir ghaemi infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran naeme javid infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran masoud bazouri infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran alijan tabarraei infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran

objective(s): it has been reported that the mutation of the pre-core (pc) and basal-core promoter (bcp) may play an important role in the development of hbv-related hepatocellular carcinoma (hcc). in this study the pc and bcp mutations were investigated in chronic hbv patients. materials and methods:in this study, 120 chronic hbv patients from golestan, northeast of iran who were not vaccinated...

Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients wi...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1390

انمی داسی شکل و ا نمی کولی جز شایع ترین بیماریهای وراثتی در انسان ها در سرتاسر دنیا بوده که هزینه های درمانی هنگفتی را بر بیماران و سیستم بهداشتی کشورها می گذارد. انمی داسی شکل اولین اختلال ژنتیکی بوده که در حدود 58 سال پیش مکانیسم ژنتیکی اش توصیف شده و اختلالش ناشی از یک point mutation در زنجیره بتای همو گلوبین می باشد که سبب dysfunction پروتین هموگلوبین شده و عامل عوارض بالینی در مبتلایان می ...

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi-fakhim department of pediatric otorhinolaryngology, children’s hospital, tabriz university of medical sciences, tabriz, iran. mehrdad asghari estiar department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran. parizad varghaei faculty of medicine, tabriz university of medical sciences, tabriz, iran mahdi alizadeh sharafi tabriz genetic analysis center (tgac), tabriz university of medical sciences, tabriz, iran. masoud sakhinia faculty of medicine, university of liverpool, liverpool, united kingdom. ebrahim sakhinia tuberculosis and lung disease research center, tabriz university of medical sciences, tabriz, iran.

introduction: cleft lips and cleft palates are common congenital abnormalities in children. various chromosomal loci have been suggested to be responsible the development of these abnormalities. the present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [mthfr] a1298c and c677t) that might contribute into the etiology of the...

Hassan Dastsooz, Majid Fardaei, Nazanin Vahedi

Objective(s):  Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...

Journal: :iranian journal of public health 0
yu-feng wen school of public health, wan nan medical college, wuhu, china. chao jiang school of public health, wan nan medical college, wuhu, china. xian-feng cheng school of public health, wan nan medical college, wuhu, china. zhi-ping zhang centre for disease prevention and control of anqing city, anqing, china. bai-feng chen school of public health, wan nan medical college, wuhu, china. yu zhu school of public health, wan nan medical college, wuhu, china.

the miru-vntr polymorphism and katg463 mutation are used to genotype the mycobacterium tuberculosis, but the correlation between them and inh-resistance were unknown. this study was aimed to explore whether etre polymorphism and katg463 mutation could predict the inh-resistance, and the relationship between etre polymorphism and katg463 mutation.the etre, katg463 mutation and drug resistance in...

Journal: :international journal of reproductive biomedicine 0
zohreh hojati somaye heidari majid motovali-bashi

background: about 10% of infertilities with obstructive azoospermia are congenital and caused by cf gene mutations. m469i mutation was observed for the first time in taiwanese patients. this mutation not only causes cf, but also may be the origin of infertility too. objective: in this study, we aimed in designing a rapid, reliable rflp-pcr procedure for detection of m469i mutation. the correlat...

آبسواران, ابوالفضل, اسماعیلی, محسن, جبارپور بنیادی, مرتضی, لطفلیزاده, نادر, یونس پور, رضا,

Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...

Journal: :iranian journal of public health 0
samaneh hajihoseini genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. majid motovali-bashi genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. mohammad amin honardoost molecular and cellular division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. nader alerasool genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran.

β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...

ژورنال: پیاورد سلامت 2008
توگه, غلام رضا, علی مقدم, کامران, عین اللهی, ناهید, غفاری, سید حمیداله, فردوسی, شیرین, قوام زاده, اردشیر, موسوی, سید اسد اله, نادعلی, فاطمه, چاردولی, بهرام,

Background and Aim : Myeloproliferative neoplasms are clonal and heterogeneous disorders of hematopoietic stem cells lead to increase of one or more cell lines in the blood. Recently, the acquired mutation JAK2 V617F has been described in the majority of patients with myeloproliferative neoplasms (MPNs).This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the J...

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