نتایج جستجو برای: vntr

تعداد نتایج: 1669  

Journal: :Physiological research 2004
M Matejková-Behanová M Vanková M Hill P Kucera O Cinek M Andel B Bendlová

Variability in the number of tandem repeats of the insulin gene (INS VNTR) is probably involved in the genetic regulation of insulin secretion. The aim of this study was to investigate the association of INS VNTR polymorphism with the presence of glutamic acid decarboxylase antibodies (GADA) and C-peptide levels in patients with the onset of diabetes after 35 years of age. We investigated 117 p...

A. El-Sayed A. Fawzy, A. Fayed H. Youssef M. Zschöck

Mycobacterium avium subsp. paratuberculosis (MAP) is the causative agent of Johne’s disease, an economically important disease in ruminants worldwide. It was first isolated in Egypt in 2005. Since then, the pathogen has been detected in different Egyptian provinces. In order to trace the source of infection, genotyping using simple methods of high discriminatory power such as mycobacterial inte...

Journal: :Pharmaceutics 2023

Treatment with second-generation antipsychotics (SGAs) can cause obesity and other cardiometabolic disorders linked to D2 receptor (DRD2) genotypes affecting dopaminergic (DA) activity, within reward circuits. We explored the relationship of alterations single genetic polymorphisms DRD2 rs1799732 (NG_008841.1:g.4750dup -> C), rs6277 (NG_008841.1:g.67543C>T), COMT rs4680 (NG_011526.1:g.270...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2004
Elena Klenova Alison C Scott Julian Roberts Shaharum Shamsuddin Elizabeth A Lovejoy Stephan Bergmann Vivien J Bubb Hans-Dieter Royer John P Quinn

The serotonin transporter (5-HTT) gene contains a variable number tandem repeat (VNTR) domain within intron 2 that is often associated with a number of neurological conditions, including affective disorders. The implications of this polymorphism are not yet understood, however, we have previously demonstrated that the 5-HTT VNTR is a transcriptional regulatory domain, and the allelic variation ...

2011
XueLiang Guo Rhonda G. Pace Jaclyn R. Stonebraker Clayton W. Commander Anthony T. Dang Mitchell L. Drumm Ann Harris Fei Zou Dallas M. Swallow Fred A. Wright Wanda K. O'Neal Michael R. Knowles

Variability in cystic fibrosis (CF) lung disease is partially due to non-CFTR genetic modifiers. Mucin genes are very polymorphic, and mucins play a key role in the pathogenesis of CF lung disease; therefore, mucin genes are strong candidates as genetic modifiers. DNA from CF patients recruited for extremes of lung phenotype was analyzed by Southern blot or PCR to define variable number tandem ...

Journal: :Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit 2008
S M Hosseini-Mazinani J Koochmeshgi Z Khazaee-Koohpar N Hosein-Pur-Nobari S M Seifati

This study of Iranian families assessed the usefulness of carrier detection of phenylketonuria by variable number tandem-repeat (VNTR) polymorphism analysis. We studied 171 people (45 unrelated PKU subjects, and their parents and unaffected siblings). Of 342 chromosomes (131 non-PKU and 211 PKU), 5 VNTR alleles were identified. This VNTR system would yield a polymorphism information content of ...

Journal: :Journal of clinical microbiology 2004
Yong-Jiang Sun Ann S G Lee Sze Ta Ng Sindhu Ravindran Kristin Kremer Richard Bellamy Sin-Yew Wong Dick van Soolingen Philip Supply Nicholas I Paton

Sixty-eight ancestral Mycobacterium tuberculosis isolates were previously identified by using the tuberculosis-specific deletion 1 (TbD1) PCR and mycobacterial interspersed-repetitive-unit-variable-number tandem repeat (MIRU-VNTR) typing (Y. J. Sun, R. Bellamy, A. S. G. Lee, S. T. Ng, S. Ravindran, S.-Y. Wong, C. Locht, P. Supply, and N. I. Paton, J. Clin. Microbiol. 42:1986-1993, 2004). These ...

Journal: :Human mutation 2003
Orna Tighe Donncha Dunican Charles O'Neill Giorgio Bertorelle Diane Beattie Colin Graham Johannes Zschocke Francesco Cali Valentino Romano Eva Hrabincova Libor Kozak Marina Nechyporenko Ludmilla Livshits Per Guldberg Monika Jurkowska Cezary Zekanowski Belen Perez Lourdes Ruiz Desviat Magdalena Ugarte Vaidutis Kucinskas Per Knappskog Eileen Treacy Eileen Naughten Linda Tyfield Susan Byck Charles R Scriver Philip D Mayne David T Croke

The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes. R408W-2.3 exhibits a west-to-east cline of relative frequency reaching its maximum in the Balto-Slavic region, while R408W-1.8 exhibits an east-to-west cline peaking in Connacht, the most westerly province of Ireland. S...

Journal: :Applied and environmental microbiology 2005
Andrea Gibson Timothy Brown Lucy Baker Francis Drobniewski

The phylogeny and evolution of the bacterium Mycobacterium tuberculosis is still poorly understood despite the application of a variety of molecular techniques. We analyzed 469 M. tuberculosis and 49 Mycobacterium bovis isolates to evaluate if the mycobacterial interspersed repetitive units-variable-number tandem repeats (MIRU-VNTR) commonly used for epidemiological studies can define the phylo...

Journal: :Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2014
Jolana Lipkova Julie Anna Bienertova-Vasku Lenka Spinarova Petr Bienert Marian Hlavna Monika Pavkova Goldbergova Jiri Parenica Jindrich Spinar Anna Vasku

AIMS The aim of this study was to investigate the relationship between gene Period3 (Per3) variable number tandem repeat (VNTR) polymorphism and chronic heart failure (CHF). METHODS The study subjects (372 patients of Caucasian origin with CHF and 332 healthy controls) were genotyped for Per3 VNTR polymorphism using an allele-specific PCR. RESULTS No significant differences in genotype or P...

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