نتایج جستجو برای: mutation detection

تعداد نتایج: 844642  

Journal: :iranian journal of cancer prevention 0
n shojaie m. sc. , department of medical biochemistry, iran pasture institute, karaj, iran f tirgari phd. , department of pathology, imam khomeini cancer institute, imam khomeini hospital, tehran, iran

abstract objective: detection of p53 gene mutation on its codon 248 between iranian women with breast cancer by pcr-rflp. material and methods: dna extraction of tumor tissues was performed in 53 patients with primary breast cancer. designing primer for the sub-studying codon was performed with nti-vector software and detection of codon 248 mutation was done by msp i pcr_rflp. results: the soma...

شفیعی جندقی, نازنین زهرا, مختاری آزاد, طلعت, کربلایی‌نیا, محمدهادی, یاوریان, ژیلا,

Background: Currently, with increasing risk of influenza A virus epidemics, a lot of studies have been performed. Oseltamivir or Tamiflu (the neuraminidase (NA) inhibitor) is one of the effective drugs for preventing and treatment of these viruses. The H274Y mutation is from the most important drug resistant factors in influenza A viruses. The aim of this study was detection of Oseltamivir...

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...

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...

Indranil Choudhuri , Kalyani Khanra, Nandan Bhattacharyya,

Background: DNA polymerase β (pol β) is a key enzyme of base excision repair pathway. It is a 1-kb gene consisting of 14 exons. Its catalytic part lies between exon 8 and exon 14. Exon 12 has a role in deoxyribonucleotide triphosphate selection for nucleotide transferase activity. Methods: Genomic DNA was isolated from ovarian carcinoma samples. Single strand conformation polymorphism...

Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...

Journal: :iranian journal of public health 0
p ghandil dd farhud s zeinali a ghadiri

hemophilia b is factor ix deficiency and is inherited as x-linked recessive disorder. the subject of carrier detection in hemophilias has received new impetus in the last several years. analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and hemophilia b carrier detection, if the identification of the gene mutation is possible. allele frequencies of t...

Journal: :iranian journal of parasitology 0
ar esmaeili rastaghi m nateghpou m assmar mr razavi h kanbara h uemura

background: this study investigated the association between pfcrt, t76 allele and chloroquine resistance in patients with falciparum malaria. molecular assays for point mutations on drugs resistance-related genes are applied tools for monitoring emerging resistance and surveillance malaria control strategies in endemic areas. the mutant genotype at codon 76 of plasmodium falciparum chloroquine ...

حسان منش, حسنا, شیخ‌الاسلامی, سارا, ظریف یگانه, مرجان, هدایتی, مهدی, کبیری, سمیرا,

Background: Thyroid carcinoma is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) approximately accounts for 5-10% of all thyroid carcinoma. Nowadays, it is obviously, the mutations in REarranged during transfection (RET) proto-oncogene, especially, mutations in exons 10, 11 and 16 are associated with MTC pathogenesis and occurrence. Thus, early diagnosis of MTC by mutati...

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