نتایج جستجو برای: copy number typing

تعداد نتایج: 1213843  

Journal: :Journal of clinical microbiology 2002
Solvig Roring Alistair Scott David Brittain Ian Walker Glyn Hewinson Sydney Neill Robin Skuce

Various genetic markers have been exploited for fingerprinting the Mycobacterium tuberculosis complex (MTBC) in molecular epidemiological studies, mainly through identifying restriction fragment length polymorphisms (RFLP). In large-scale studies, RFLP typing has practical processing and analysis limitations; therefore, attempts have been made to move towards PCR-based typing techniques. Spolig...

2014
Joseph Evans Jeongwoon Kim Kevin L Childs Brieanne Vaillancourt Emily Crisovan Aruna Nandety Daniel J Gerhardt Todd A Richmond Jeffrey A Jeddeloh Shawn M Kaeppler Michael D Casler C Robin Buell

Switchgrass (Panicum virgatum) is a polyploid, outcrossing grass species native to North America and has recently been recognized as a potential biofuel feedstock crop. Significant phenotypic variation including ploidy is present across the two primary ecotypes of switchgrass, referred to as upland and lowland switchgrass. The tetraploid switchgrass genome is approximately 1400 Mbp, split betwe...

Journal: :Journal of clinical microbiology 2005
Mirjam-Colette Kempf Nancy E Dunlap Kerry H Lok William H Benjamin Nancy B Keenan Michael E Kimerling

With a tuberculosis case detection rate of 5.9 per 100,000 population in 2001, Alabama ranked twelfth highest in the United States. However, cases among foreign-born and human immunodeficiency virus-infected individuals remain low in Alabama. To understand the endemic statewide disease pattern, tuberculosis strains were studied for clustering in a long-term population-based study from January 1...

2010
James A. Traherne Maureen Martin Rosemary Ward Maki Ohashi Fawnda Pellett Dafna Gladman Derek Middleton Mary Carrington John Trowsdale

The fine-scale structure of the majority of copy number variation (CNV) regions remains unknown. The killer immunoglobulin receptor (KIR) gene complex exhibits significant CNV. The evolutionary plasticity of the KIRs and their broad biomedical relevance makes it important to understand how these immune receptors evolve. In this paper, we describe haplotype re-arrangement creating novel loci at ...

Journal: :Forensic science international 2003
M Kinga Balogh Joachim Burger Klaus Bender Peter M Schneider Kurt W Alt

A systematic study was conducted to investigate whether DNA can be successfully extracted from latent fingerprints deposited on ordinary paper and analysed using short tandem repeat profiling and mitochondrial DNA sequencing. In order to evaluate the performance of latent fingerprint analysis in a criminal case, experiments with varying conditions were carried out to improve our understanding o...

Journal: :Pharmacogenomics 2006
Karim Ouahchi Neal Lindeman Charles Lee

The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...

Journal: :Cytogenetic and genome research 2008
H Riethman

Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...

Journal: :Journal of clinical microbiology 1998
D Cousins S Williams E Liébana A Aranaz A Bunschoten J Van Embden T Ellis

DNA fingerprinting techniques were used to type 273 isolates of Mycobacterium bovis from Australia, Canada, the Republic of Ireland, and Iran. The results of restriction fragment length polymorphism (RFLP) analysis with DNA probes from IS6110, the direct repeat (DR), and the polymorphic GC-rich sequence (PGRS) were compared with those of a new PCR-based method called spacer oligonucleotide typi...

Journal: :hepatitis monthly 0
sharareh kamfar department of molecular medicine and genetics, school of medicine, hamadan university of medical sciences, hamadan, ir iran; research center for molecular medicine, hamadan university of medical sciences, hamadan, ir iran seyed moayed alavian baqiyatallah research center for gastroenterology and liver diseases (brcgl), baqiyatallah university of medical sciences, tehran, ir iran; middle east liver diseases (meld) center, tehran, ir iran massoud houshmand department of medical genetics, national institute for genetic engineering and biotechnology, tehran, ir iran reza yadegarazari shohada hospital of harsin, kermanshah university of medical sciences, kermanshah, ir iran bahram seifi zarei school of medicine, shahid beheshti hospital, hamadan university of medical sciences, hamadan, ir iran alireza khalaj obesity treatment center, department of surgery, shahed university, tehran, ir iran

results the relative expression of mtdna copy number was 3.7 fold higher in nafld patients than healthy controls (p < 0.0001). the results remained significant after adjustment for age, bmi, and gender (p = 0.02). in addition, the mtdna copy number was 4.3 (p < 0.0001) and 3.2-fold (p < 0.0001) higher in nonalcoholic fatty liver (nafl) and non-alcoholic steatohepatitis (nash) patients than heal...

Journal: :Cytogenetic and genome research 2008
J A Bailey J M Kidd E E Eichler

Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Most of the current data regarding normal genic variation, however, has been gen...

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