Search results for " Restriction Fragment Length"

showing 3 items of 133 documents

Distribution of Ha-ras alleles in patients with colorectal cancer and Crohn's disease.

1991

The allele distribution of the Ha-ras gene on chromosome 11p was analysed by the restriction fragment length polymorphism of the enzymes Mspl/Hpall in 238 individuals. The investigation covered 116 patients with colorectal carcinoma and 122 patients with Crohn's disease, representing two patient populations with the same ethnic origin, one with a malignant and the other a benign disease of the same organ system. A total of 17 different alleles were detected belonging to the common, intermediate, and rare classes according to the original nomenclature of Ha-ras alleles. Patients with Crohn's disease showed no difference in the distribution of Ha-ras alleles when compared with expected freque…

medicine.medical_specialtyGenotypeColorectal cancerDiseaseBiologyGastroenterologyCrohn DiseasePolymorphism (computer science)Internal medicineGenotypemedicineHumansAlleleAllelesCrohn's diseaseGastroenterologymedicine.diseaseExact testBlotting SouthernGenes rasImmunologyDisease SusceptibilityRestriction fragment length polymorphismColorectal NeoplasmsPolymorphism Restriction Fragment LengthResearch Article
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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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