نتایج جستجو برای: sensitive gel electrophoresis csge

تعداد نتایج: 395836  

Journal: :Haematologica 2007
Mohammad Hashemi Soteh Ian R Peake Luke Marsden John Anson Javier Batlle Dominique Meyer Edith Fressinaud Claudine Mazurier Jenny Goudemand Jeroen Eikenboom Anne Goodeve

Two versions of conformation sensitive gel electrophoresis, fluorescent (F-CSGE) and manual (M-CSGE) techniques, were compared for mutation analysis of the von Willebrand factor gene. 56 PCRs were used to amplify all 52 exons of the gene in seven type 1 von Willebrand disease cases, plus a healthy control. One hundred and ninety-two samples were analyzed on each F-CSGE gel, compared with 40 on ...

Journal: :iranian biomedical journal 0
حمیدرضا خرم خورشید hamid reza khorram khorshid raymond dalgleish

background: several methods have been developed for detection of sequence variation in genes and each has its advantages and disadvantages. a disadvantage of them is that the simpler, cost-effective methods are commonly perceived as being less sensitive in their detection of sequence variation, whereas those with proven sensitivity have a requirement for complex or expensive laboratory equipmen...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2007
Marcelo A C G dos Santos Elisangela Pereira de S Quedas Rodrigo de Almeida Toledo Delmar M Lourenço Sergio Pereira de A Toledo

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited tumor syndrome caused by RET proto-oncogene germline mutations (RET). Here we tested the Conformation Sensitive Gel Electrophoresis (CSGE) as a screening method for RET hot-spot mutations. Seven MEN2 families were studied by direct sequencing analysis, CSGE and Single Strand Conformational Polymorphism (SSCP). Using C...

Journal: :iranian biomedical journal 0
بهرام کاظمی bahram kazemi نگار سید negar seyed الهام مسلمی elham moslemi مژگان بنده پور mojgan bandehpour مریم بیخاف تربتی maryam bikhof torbati نوید سعادت navid saadat اکرم عیدی

background: patients with diabetes mellitus type ii suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. there are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. in this st...

هاشمی سوته , سیدمحمدباقر, گودیو , آن,

Background and purpose: Von Willebrand Disease (VWD) type 1, is the most common inherited bleeding disorder caused by defect in Von Willebrand Factor (VWF) gene with 178000 nucleotide length. Different methods are available to detect unknown mutations in a genetic study. The fluorescent conformation sensitive gel electrophoresis (F-CSGE) was designed for the VWF gene by using fluorescent dyes...

Journal: :Iranian biomedical journal 2008
Hamid Reza Khorram Khorshid Raymond Dalgleish

BACKGROUND Several methods have been developed for detection of sequence variation in genes and each has its advantages and disadvantages. A disadvantage of them is that the simpler, cost-effective methods are commonly perceived as being less sensitive in their detection of sequence variation, whereas those with proven sensitivity have a requirement for complex or expensive laboratory equipment...

Journal: :BioTechniques 2001
Y F Leung P O Tam W C Tong L Baum K W Choy D S Lam C P Pang

High-throughput screening for single nucleotide polymorphisms (SNPs) or mutations can be achieved by inexpensive technologies. We modified the original protocols of conformation-sensitive gel electrophoresis (CSGE) to increase throughput several fold to 1.3 samples/min, which is about five times faster than denaturing high-performance liquid chromatography (DHPLC). The modifications include dec...

Hamid Reza Khorram Khorshid, Raymond Dalgleish,

Background: Several methods have been developed for detection of sequence variation in genes and each has its advantages and disadvantages. A disadvantage of them is that the simpler, cost-effective methods are commonly perceived as being less sensitive in their detection of sequence variation, whereas those with proven sensitivity have a requirement for complex or expensive laboratory equipmen...

Journal: :modares journal of medical sciences: pathobiology 2008
nasim vasli mehrdad norouzi nia aboutaleb sarami mehrdad azmi forouzande mahjoubi

objectives: familial adenomatous polyposis (fap) is an autosomal dominant predisposition to colon cancer. this hereditary genetic disease is characterized by more than 100 adenomatous polyps in colon and rectum. additional features may include desmoids tumors, polyps in the upper gastrointestinal tract, osteomas and congenital hypertrophy of the retinal pigment epithelium (chrpe). a mutation in...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1998
J Körkkö S Annunen T Pihlajamaa D J Prockop L Ala-Kokko

Previously, an assay called conformation sensitive gel electrophoresis (CSGE) was developed for scanning PCR products for the presence of single-base and larger base mismatches in DNA. The assay was based on the assumption that mildly denaturing solvents in an appropriate buffer can accentuate the conformational changes produced by single-base mismatches in double-stranded DNA and thereby incre...

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