Search results for "VNTR"
showing 10 items of 12 documents
Stabilizing selection on microsatellite allele length at arginine vasopressin 1a receptor and oxytocin receptor loci
2017
The loci arginine vasopressin receptor 1a ( avpr1a ) and oxytocin receptor ( oxtr ) have evolutionarily conserved roles in vertebrate social and sexual behaviour. Allelic variation at a microsatellite locus in the 5′ regulatory region of these genes is associated with fitness in the bank vole Myodes glareolus . Given the low frequency of long and short alleles at these microsatellite loci in wild bank voles, we used breeding trials to determine whether selection acts against long and short alleles. Female bank voles with intermediate length avpr1a alleles had the highest probability of breeding, while male voles whose avpr1a alleles were very different in length had reduced probability of …
MOLECULAR EPIDEMIOLOGY OF MYCOBACTERIUM TUBERCULOSIS COMPLEX IN PALERMO, ITALY
2014
Background: We aimed to investigate the molecular epidemiology of Mycobacterium tuberculosis complex (MTBC) in the province of Palermo, Italy, by characterizing 183 isolates identified in the years 2004-2012. A comparison with 104 MTBC strains identified in the same geographic area in the years 1994-2000 was also carried out. Methods: MTBC isolates were analyzed by spoligotyping and the 24 mycobacterial interspersed repetitive unit (MIRU)-variablenumber tandem-repeat (VNTR) method typing. Susceptibility testing to streptomycin, isoniazid, rifampin and ethambutol was also carried out. Furthermore, the spoligotyping dataset obtained from 104 MTBC isolates identified in the years 1994-2000 in …
Marcadores genéticos dopaminérgicos, serotoninérgicos y de la monoamino-oxidasa (MAO) relacionados con la adicción a los opiáceos, a la cocaína y al …
2013
Introducción: la genética está experimentando un avance espectacular y se postula como una herramienta importante para aportar nuevos descubrimientos en trastornos complejos como son las adicciones. En el presente trabajo se ha realizado un estudio de asociación genética de polimorfismos VNTR, un estudio familiar y un estudio mixto de asociación genético-familiar en una muestra de policonsumidores con adicción al alcohol, la cocaína y los opiáceos. Material y métodos: en una muestra de 302 policonsumidores, se recogieron y genotiparon muestras a partir de células epiteliales de la mejilla para observar las frecuencias de marcadores de las vías dopaminérgica, serotoninérgica y de la MAO en l…
Evolución de la Tuberculosis en Castellón (2008-2012). Caracterización genotípica mediante 15 MIRU-VNTR
2015
Tesis doctoral, 151 páginas.
Molecular epidemiology of tuberculosis in Sicily, Italy: what has changed after a decade?
2014
Background We aimed to investigate the molecular epidemiology of Mycobacterium tuberculosis complex (MTBC) isolates in the province of Palermo, Sicily, Italy, by characterizing 183 isolates identified in the years 2004-2012. A comparison with 104 MTBC strains identified in the same geographic area in the years 1994-2000 was also carried out. Methods One hundred eighty-three MTBC isolates identified in Palermo, Italy, in the years 2004-2012 were analyzed by spoligotyping and the 24 mycobacterial interspersed repetitive unit (MIRU)-variable-number tandem-repeat (VNTR) method typing. Susceptibility testing to streptomycin, isoniazid, rifampin and ethambutol was also performed. Furthermore, the…
Report of a european collaborative exercise comparing DNA typing results using a single locus VNTR probe
1991
A collaborative exercise was carried out in 1989 among 12 European forensic laboratories using the single locus VNTR probe pYNH24, the restriction enzyme HinfI, the same set of human genomic DNA samples, and a standardized DNA size marker. The objectives of the exercise were: (1) to study the degree of variation within and between laboratories, (2) to obtain information on requirements for technical standardization allowing the exchange of typing results and (3) to compare different approaches for the identification of allelic DNA fragments of unknown size. Each laboratory carried out up to 10 independent typing experiments using the same DNA samples. The results were analysed independently…
Estudio de la distribución clonal de aislados clínicos de Mycobacterium tuberculosis complex mediante técnicas genotípicas en el área de influencia d…
2019
La tuberculosis sigue siendo un importante problema sanitario y de salud pública a escala mundial. Por esta razón se han establecido estrategias que contribuyen a mejorar los procesos de control y vigilancia de esta enfermedad, basadas en el estudio epidemiológico molecular del complejo Mycobacterium tuberculosis. En las últimas dos décadas han surgido múltiples técnicas de genotipificación aplicadas a este microorganismo, permitiendo discriminar el origen clonal de los aislados clínicos en distintos contextos. El objetivo principal de este estudio es la caracterización molecular de 154 aislados clínicos del complejo Mycobacterium tuberculosis en el Departamento de Salud Valencia - Hospital…
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
2003
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. Spatial autocorrelation analysis has demonstrated that the R408W-2.3 cline, like that of R408W-1.8, is consistent with a pattern likely to have been established by human dispersal. Genetic diversity within wild-type and R408W chromosomes in Europe was assessed through variable number tandem repeat (VNT…
CYP2E1 VNTR polymorphisms and hepatocarcinoma: a gender-specific correlation
2010
Cytochrome P450 (CYP2E1) is often associate to susceptibility to alcohol-related diseases and various cancers, because of its role in the metabolism of multiple environmental xenobiotics. In the 5’- flanking region of the human CYP2E1 gene there are restriction fragment length polymorphism which are involved in the transcriptional regulation of the CYP2E1 gene. Recently a tandem repeat polymorphism (VNTR) in the 5’-flanking region of CYP2E1 was found. Because cytochrome P450 2E1 catalyzes the metabolic activation of pro-carcinogen and cytotoxic compound, we value the genetic distribution of this tandem repeat polymorphism in a healthy population, and in patients with hepatocellular carcinom…
Variable Number of Tandem Repeats (VNTR) gene polymorphism of CYP2E1 in patients with pancreatic adenocarcinoma
2010
Context: The genetic polymorphism is considered a major source of variability, influencing the levels of gene expression. Cytochrome P450 2E1 (CYP2E1) is a mixed-function oxidase involved in the metabolism of the many endogenous and exogenous substances (ethanol, chemical carcinogens) in the hepatic and pancreatic tissue. CYP2E1 gene polymorphisms can cause various abilities of metabolize xenobiotic substances within a population with consequent increased susceptibility to various diseases,including cancer. One of the polymorphisms of the CYP2E1 gene is a VNTR (Variable Number Tandem Repeat) of some sequences in its "5 '- flanking region. Method : VNTR genotype CYP2E1 was determined by RFLP…