Search results for "Restriction fragment"

showing 5 items of 215 documents

PPAR alpha gene variants as predicted performance-enhancing polymorphisms in professional Italian soccer players

2014

Patrizia Proia,1 Antonino Bianco,1 Gabriella Schiera,2 Patrizia Saladino,2 Valentina Contrò,1 Giovanni Caramazza,3 Marcello Traina,1 Keith A Grimaldi,4 Antonio Palma,1 Antonio Paoli5 1Sport and Exercise Sciences Research Unit, 2Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy; 3Regional Sports School of CONI Sicilia, Sicily, Italy; 4Biomedical Engineering Laboratory, Institute of Communication and Computer Systems, National Technical University of Athens, Athens, Greece; 5Department of Biomedical Sciences, University of Padova, Padua, Italy Background: The PPARα gene encodes the peroxisome proliferato…

medicine.medical_specialtyTaqIperoxisome proliferator-activator receptor alpha endurance athletesG allelegene variantsPCR-RFLPchemistry.chemical_compoundBlood serumPolymorphism (computer science)Endurance trainingInternal medicineSettore BIO/10 - BiochimicaGenotypemedicineAlleleOpen Access Journal of Sports MedicineOriginal Researchmedicine.diagnostic_testbusiness.industryEndocrinologychemistryendurance athleteRestriction fragment length polymorphismbusinessLipid profilehuman activities
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Effect of CYP1A1 Gene Polymorphisms on Estrogen Metabolism and Bone Density

2004

UNLABELLED: In this study, we evaluated the effect of polymorphisms of the CYP1A1 gene, linked to hormone-related cancers, on estrogen metabolism and BMD. We found that variants carrying the A allele (CA and AA) for the C4887A polymorphism have a significantly higher degree of estrogen catabolism and lower femoral BMD. INTRODUCTION: Polymorphisms of the CYP1A1 gene, one of the key enzymes that metabolize estrogen, have been linked with hormone-related cancers. We investigated the impact of these polymorphisms on estrogen metabolism and BMD, which is another hormone-dependent health issue. MATERIALS AND METHODS: One hundred seventy postmenopausal women (mean age, 63.5 +/- 0.6 years) particip…

medicine.medical_specialtyTime FactorsGenotypeBone densitymedicine.drug_classEndocrinology Diabetes and MetabolismOsteoporosisRadioimmunoassayBiologyArticleCollagen Type IBone resorptionImmunoenzyme TechniquesAbsorptiometry PhotonBone DensityRisk FactorsInternal medicinehormones and receptorGenotypeCytochrome P-450 CYP1A1medicineHumansosteoporosiOrthopedics and Sports MedicineFemurBone ResorptionAllelesAgedPolymorphism GeneticEstradiolgenetic researchEstrogensMiddle Agedmedicine.diseaseGenotype frequencyPostmenopauseMenopauseEndocrinologyEstrogenepidemiologyFemaleCollagenGene polymorphismMenopausePeptidesPolymorphism Restriction Fragment LengthJournal of Bone and Mineral Research
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Molecular Analysis of the Androgen Receptor Gene in 52 Patients with Complete or Partial Androgen Insensitivity Syndrome: A Collaborative Study

1992

In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and …

medicine.medical_specialtyX Chromosomemedicine.drug_classEndocrinology Diabetes and MetabolismMolecular Sequence DataDeoxyribonuclease HindIIIBiologyurologic and male genital diseasesPolymerase Chain Reactionchemistry.chemical_compoundEndocrinologyInternal medicinemedicineHumansPartial androgen insensitivity syndromeGeneSex Chromosome AberrationsBase SequenceAndrogen Receptor GeneDNASyndromeMetribolonemedicine.diseaseAndrogenMolecular analysisEndocrinologychemistryReceptors AndrogenMutationAndrogensAndrogen insensitivity syndromeRestriction fragment length polymorphismPolymorphism Restriction Fragment LengthDNAHormone Research
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Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations

1999

Two biallelic polymorphisms in introns 3 and 6 of the p53 gene were analysed for a possible risk-modifying effect for ovarian cancer. Germline DNA was genotyped from 310 German Caucasian ovarian cancer patients and 364 healthy controls. We also typed 124 affected and 276 unaffected female carriers with known deleterious BRCA1 or BRCA2 germline mutation from high-risk breast-ovarian cancer families. Genotyping was based on PCR and high-resolution gel electrophoresis. German ovarian cancer patients who carried the rare allele of the MspI restriction fragment length polymorphism (RELP) in intron 6 were found to have an overall 1.93-fold increased risk (95% confidence internal (CI) 1.27–2.91) w…

p53AdultCancer Researchendocrine system diseasesAdolescentGenotypeGenes BRCA1BiologypolymorphismGermline mutationRisk FactorsGenotypemedicineTumor Cells CulturedHumansAlleleAllele frequencyGerm-Line MutationAgedGeneticsAged 80 and overBRCA2 ProteinOvarian NeoplasmsGenetic Carrier ScreeningCancerGenetic VariationRegular ArticleMiddle Agedmedicine.diseaseBRCA2 ProteinBRCA1Genes p53BRCA2IntronsNeoplasm Proteinsovarian cancerOncologyCase-Control StudiesCancer researchFemaleRestriction fragment length polymorphismOvarian cancergenetic susceptibilityTranscription FactorsBritish Journal of Cancer
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A single tube PCR assay for detecting viruses and their recombinants that cause tomato yellow leaf curl disease in Mediterranean basin

2007

Tomato yellow leaf curl disease (TYLCD) is well known in Mediterranean countries, where it has been causing severe losses in tomato crops for decades. Until recently, two viruses (with several isolates) in the genus Begomovirus, family Geminiviridae, have been associated with the epidemics: Tomato yellow leaf curl virus (TYLCV) and Tomato yellow leaf curl Sardinia virus (TYLCSV). However, recombinants between these, such as Tomato yellow leaf curl Malaga virus (TYLCMalV), are spreading, and new methods for detecting all viruses present in the region are needed. By considering all DNA sequences available of viruses causing TYLCD in the Mediterranean basin, a PCR/RFLP protocol was developed t…

virusestomatoPolymerase Chain ReactionViruslaw.inventionIntergenic regionSolanum lycopersicumlawVirologyGeminiviridaeTomato yellow leaf curl virusrecombinantPolymerase chain reactionPlant DiseasesbiologyMediterranean RegionfungiBegomovirusSettore AGR/12 - Patologia VegetaleTYLCDfood and beveragesmultiplex PCRbiology.organism_classificationVirologyPlant LeavesgeminivursBegomovirusLeaf curlRestriction fragment length polymorphism
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