Search results for " polymorphism"

Influence of CYP2D6 polymorphism on the cytotoxicity of the designer drug 4-methylthioamphetamine (4-MTA)

2007

Association between Opioid Receptor mu 1 (OPRM1) Gene Polymorphisms and Tobacco and Alcohol Consumption in a Spanish Population.

2015

Evidence gained from animals and humans suggests that the encephalic opioid system might be involved in the development of drug addiction through its role in reward. Our aim is to assess the influence of genetic variations in the opioid receptor mu 1 on alcohol and tobacco consumption in a Spanish population. 763 unrelated individuals (465 women, 298 men) aged 18-85 years were recruited between October 2011 and April 2012. Participants were requested to answer a 35-item questionnaire on tobacco and alcohol consumption, as well as to complete the AUDIT and Fagerström tests. Individuals were genotyped for three polymorphisms in the opioid receptor mu 1 (OPRM1) gene, using a TaqMan® protocol. …

FOKI AND BSMI VITAMIN D RECEPTOR GENE POLYMORPHISMS, ARE THEY ASSOCIATED WITH INTIMA MEDIA THICKNESS IN ESSENTIAL HYPERTENSIVE INDIVIDUALS

2015

Objective: Analyzing 25hydroxyvitaminD (25[OH]D) serum levels and common carotid intimamedia thickness (IMT) relationship, and evaluating the association of FokI and BsmI vitamin D receptor (VDR) gene polymorphisms with IMT in essential hypertensive patients were our study aims. Design and method: We enrolled seventyone essential hypertensive patients, 18–75 years old. Patients underwent clinical blood pressure (BP) measurement, 24 hour ambulatory blood pressure monitoring, routine blood test, 25[OH]D assay and common carotid IMT evaluation. FokI and BsmIVDRpolymorphisms were analyzed by polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP).

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.

2014

Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10 -20) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10 -11) near ETS1; 3q28 (rs6444305, p = 1.10 × 10 -10) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10 -10) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10 -8) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRß1 multiallelic amino acids at p…

Global phylogeography and geographical variation in warning coloration of the wood tiger moth (Parasemia plantaginis)

2015

Aim To investigate the phylogeography of the aposematic wood tiger moth (Parasemia plantaginis) across its Holarctic distribution and to explore how its genetic structure relates to geographical differences in hindwing warning coloration of males and females. Males have polymorphic hindwing coloration, while female hindwing coloration varies continuously, but no geographical analyses of coloration or genetic structure exist. Location The Holarctic. Methods We sequenced a fragment of the mitochondrial cytochrome c oxidase subunit I gene (COI) from 587 specimens. We also examined more current population structure by genotyping 569 specimens at 10 nuclear microsatellite loci. Species distribut…

Molecular tools to assess the diversity and density of denitrifying bacteria in their habitats

2007

Publisher Summary This chapter describes the molecular tools to assess the diversity and density of denitrifying bacteria in their habitats. Genome sequencing and metagenomic projects might even provide new denitrification gene sequences, which could aid in designing more broad range primers. Most information is obtained by cloning and sequencing the polymerase chain reaction (PCR) amplicons, but a more rapid analysis is achieved using fingerprinting techniques. As all PCR-based analyses, the fingerprinting techniques are subjected to well-known biases introduced by, e.g., DNA extraction procedures, primer selection, and PCR conditions. For denitrifiers, the PCR-RFLP (restriction fragment l…

Increasing voltage gradient electrophoresis of DNA

2007

We developed a method which allows electrophoretic fractionation of DNA in an agarose matrix according to an increasing current gradient, using a previously designed [R. Barbieri, V. Izzo, M.A. Costa, G. Giudice, G. Duro, Anal. Biochem. 212 (1993) 168; M.R. Asaro, V. Izzo, R. Barbieri, J. Chromatogr. A 855 (1999) 723] voltage gradient apparatus. This method allows the separation of different DNA fragments by increasing the distances of the components fractionated in the gel, revealing small differences in the length of different DNA components.

Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.

1993

Abstract The fourth component of the human complement system (C4) is coded for by two genes, C4A and C4B, located within the MHC. Null alleles of C4 (C4Q0) are defined by the absence of C4 protein in plasma. These null alleles are due either to large gene deletions or to nonexpression of the respective genes. In a previous study, evidence was obtained for nonexpressed defective genes at the C4A locus, and for gene conversion at the C4B locus. To further characterize the molecular basis of these non-expressed C4A genes, we selected nine pairs of PCR primers from flanking genomic intron sequences to amplify all 41 exons from individuals with a defective C4A gene. The amplified products were s…

DNA-methylation dependent regulation of embryo-specific 5S ribosomal DNA cluster transcription in adult tissues of sea urchin Paracentrotus lividus

2013

Abstract We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus and recently, demonstrated the presence of high heterogeneity in functional 5S rRNA. In this paper, we show some important distinctive data on 5S rRNA transcription for this organism. Using single strand conformation polymorphism (SSCP) analysis, we demonstrate the existence of two classes of 5S rRNA, one which is embryo-specific and encoded by the smallest (700 bp) cluster and the other which is expressed at every stage and encoded by longer clusters (900 and 950 bp). We also demonstrate that the embryo-specific class of 5S rRNA is ex…

A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for…

2014

Abstract Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages ≤ 51 years. The SNPs with smallest P values were examined in a replication set of 3,470 EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control …