نتایج جستجو برای: amplified refractory mutation system

تعداد نتایج: 2553865  

Journal: :Genetics and molecular research : GMR 2015
W C Yang L Zhu B X Zhou S Tania Q Zhou M A Khan X L Fu J L Cheng H B Lv J J Fu

Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and ide...

ژورنال: :hepatitis monthly 0
jeyanthi suppiah virology unit, institute for medical research, kuala lumpur, malaysia; virology unit, institute for medical research, jln pahang, 50588 kuala lumpur, malaysia. tel: +60-326162674 rozainanee mohd zain virology unit, institute for medical research, kuala lumpur, malaysia norazlah bahari pathology unit, selayang hospital, selangor, malaysia salbiah haji nawi microbiology unit, hospital kuala lumpur, kuala lumpur, malaysia zainah saat virology unit, institute for medical research, kuala lumpur, malaysia

conclusions our data suggested an intermediate prevalence of g1896a mutation among malaysian hepatitis b carriers. the stop codon mutation has a significant association with genotype b and patients with chronic hepatitis b and liver cirrhosis. patients and methods serum samples from 93 patients confirmed as hepatitis b carriers were collected for molecular assay. the whole genome of hbv was amp...

M.R. Noori-Daloii

Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

Journal: :journal of paramedical sciences 0
hossein mohebbifar department of genetics, islamic azad university, tehran medical sciences branch, tehran,iran mehrdad hashemi department of genetics, islamic azad university, tehran medical sciences branch, tehran,iran saaid morovvati department of genetics, islamic azad university, tehran medical sciences branch, tehran,iran

one of the leading causes of death in the world are cardiovascular diseases, among which coronary artery disease (cad) is the most common one. it occurs as a result of narrowing of the arteries which supply blood to the heart due to a theroma plaque formation. this kind of heart disease can be considered as a multifactorial one as genetic and environmental factors are involved in its incidence....

Journal: :The Journal of clinical investigation 2006
Jeffrey A Engelman Toru Mukohara Kreshnik Zejnullahu Eugene Lifshits Ana M Borrás Christopher-Michael Gale George N Naumov Beow Y Yeap Emily Jarrell Jason Sun Sean Tracy Xiaojun Zhao John V Heymach Bruce E Johnson Lewis C Cantley Pasi A Jänne

EGFR is frequently mutated and amplified in lung adenocarcinomas sensitive to EGFR inhibitors gefitinib and erlotinib. A secondary mutation, T790M, has been associated with acquired resistance but has not been shown to be sufficient to render EGFR mutant/amplified lung cancers resistant to EGFR inhibitors. We created a model for studying acquired resistance to gefitinib by prolonged exposure of...

Journal: :Journal of medical genetics 1991
C R Newton C Summers L E Heptinstall J R Lynch R S Finniear D Ogilvie J C Smith A F Markham

A new method of genetic analysis has been devised. The method, amplification refractory mutation system (ARMS), has been used to genotype the J3.11 MspI restriction fragment length polymorphism (RFLP) closely linked to cystic fibrosis (CF). The DNA sequence for both alleles of this dimorphism has been used to design ARMS primers. These allow genotyping of DNA isolated from blood, Guthrie cards,...

Journal: :reports of biochemistry and molecular biology 0
fatemeh keify pardis clinical and genetics laboratory, mashhad, iran. mohsen azimi-nezhad pardis clinical and genetics laboratory, mashhad, iran - department of medical genetics, school of medicine, mashhad university of medical sciences, mashhad, iran - université de lorraine, unité de recherche “interactions gène-environnement en physiopathologie cardio vasculaire” l’umr inserm u 1122, ige-pcv, nancy, france. narges zhiyan-abed pardis clinical and genetics laboratory, mashhad, iran - razavi’s social welfare organization, mashhad, iran. mojila nasseri pardis clinical and genetics laboratory, mashhad, iran. mohammad reza abbaszadegan tel: +98 5117112343; fax: +98 5117112343

background: thrombophilia is a main predisposition to thrombosis due to a procoagulant state. several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. these thrombophilic mutations are methylenetetrahydrofolate reductase (mthfr, c677t, and a1298c), factor v leiden (g1691a), prothrombin gene mutation (factor ii, g20210a), and plasminogen...

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