Search results for "Profiling"

showing 10 items of 881 documents

Report of the European DNA profiling group (EDNAP): an investigation of the complex STR loci D21S11 and HUMFIBRA (FGA).

1997

This paper describes a collaborative exercise which was intended to demonstrate whether uniformity of DNA profiling results could be achieved between European laboratories using two complex short tandem repeat (STR) loci. The loci D21S11 and HUMFIBRA (FGA) were chosen because they are commonly used by different European laboratories. D21S11 has approximately 14 common alleles (f > 0.001), whereas HUMFIBRA has 19 common alleles. Laboratories were asked to test seven blood stains, one of which was a known control, and to report the results to the coordinating laboratory. The exercise demonstrated that complex STRs were amenable to standardisation.

GeneticsBlood StainsRepetitive SequencesReproducibility of ResultsDNABiologyPathology and Forensic MedicineEuropeDNA profilingMulticenter studyGenetic markerStr lociMicrosatelliteHumansLaboratoriesLawAllelesDNA PrimersRepetitive Sequences Nucleic AcidForensic science international
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MicroRNAs and cellular phenotypy.

2010

This Essay explores the notion that specialized cells have unique vulnerabilities to environmental contingencies that microRNAs help to counteract. Given the ease with which new microRNAs evolve, they may serve as ideal facilitators for the emergence of new cell types.

GeneticsCognitive scienceMicroRNAsPhenotypeGene Expression RegulationBiochemistry Genetics and Molecular Biology(all)Gene Expression ProfilingmicroRNAAnimalsHumansCell DifferentiationBiologyGeneral Biochemistry Genetics and Molecular BiologyCell
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rRNA gene restriction patterns and biotypes of Shigella sonnei.

1993

SUMMARYShigella sonneiis a major agent of diarrhoeal disease in developed as well as in developing countries. Several phenotypic methods to define strain differences have been applied to this species ofShigellaincluding, more recently, analysis of extrachromosomal and chromosomal DNA.In this study, 432 endemic and epidemic strains isolated between 1975 and 1991 in Italy, France and Switzerland were submitted to rRNA gene restriction pattern analysis, after digestion of whole-cell DNA byHincII, and to concomitant biotyping.Thirteen ribotypes, HI to H13, and five biotypes, a, d, e, f, g, were detected. Xinety-five percent of the sporadic strains were assigned to ribotypes HI to H4, which coul…

GeneticsDNA BacterialEpidemiologyShigella sonneiDNA Restriction EnzymesRibosomal RNABiologymedicine.disease_causeDNA FingerprintingDNA RibosomalSubtypingMicrobiologyBacterial Typing TechniquesRibotypingRNA BacterialInfectious DiseasesRestriction mapDNA profilingRNA RibosomalmedicineShigellaShigella sonneiRibosomal DNAResearch Article
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Molecular typing of clinical Candida strains using random amplified polymorphic DNA and contour-clamped homogenous electric fields electrophoresis.

2009

Aims:  This report describes an investigation into the genetic profiles of 38 Candida albicans and 19 Candida glabrata strains collected from a dental hospital of Monastir (Tunisia) and the Laboratory of Parasitology, Farhat Hached Hospital of Sousse (Tunisia), using two typing methods: random amplified polymorphic DNA (RAPD) and contour-clamped homogenous electric fields (CHEF). Methods and Results:  The two methods (RAPD and CHEF electrophoresis) were able to identify clonal-related isolates from different patients. RAPD method using two primers (CA1 and CA2) exhibited the highest discriminatory power by discriminating 22 genotypes for C. albicans with CA1 oligonucleotides and 19 genotype…

GeneticsElectrophoresisPolymorphism GeneticTunisiaCandida glabratabiologyCandidiasisCandida glabrataGeneral Medicinebacterial infections and mycosesbiology.organism_classificationApplied Microbiology and BiotechnologyGenetic analysisRAPDRandom Amplified Polymorphic DNA TechniqueDNA profilingParasitologyGenotypeCandida albicansHumansTypingCandida albicansBiotechnologyDNA PrimersJournal of applied microbiology
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Expression profiling of human fetal growth plate cartilage by EST sequencing.

2005

The differentiation of mesenchymal stem cells into hypertrophic chondrocytes is an integral and multistep process important in pattern formation, endochondral ossification, and postnatal growth of the skeleton. In recent years, novel genes involved in these processes have been identified, but still only little is known about the large-scale gene expression profile during skeletal development. We initiated an expressed sequence tag (EST) project aiming at the identification of genes and pathways involved in this complex process. Candidate genes are expected to be of value for diagnosis and treatment of monogenic and multigenic heritable disorders of the skeleton. Here, we describe the sequen…

GeneticsExpressed Sequence TagsCandidate geneExpressed sequence tagExtracellular Matrix ProteinscDNA libraryIn silicoGene Expression ProfilingGene Expression Regulation DevelopmentalBiologyGene expression profilingFetusGene expressionHumansProteoglycansGrowth PlateMolecular BiologyEndochondral ossificationGeneMatrix biology : journal of the International Society for Matrix Biology
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Forensic validation of the SNPforID 52-plex assay.

2007

The advantages of single nucleotide polymorphism (SNP) typing in forensic genetics are well known and include a wider choice of high-throughput typing platforms, lower mutation rates, and improved analysis of degraded samples. However, if SNPs are to become a realistic supplement to current short tandem repeat (STR) typing methods, they must be shown to successfully and reliably analyse the challenging samples commonly encountered in casework situations. The European SNPforID consortium, supported by the EU GROWTH programme, has developed a multiplex of 52 SNPs for forensic analysis, with the amplification of all 52 loci in a single reaction followed by two single base extension (SBE) react…

GeneticsForensic GeneticsAnalysis of VarianceGenotypeDNABiologySingle-base extensionDNA FingerprintingPolymorphism Single NucleotideSensitivity and SpecificityPathology and Forensic MedicineEuropeDNA profilingSTR analysisGeneticsMicrosatelliteHumansMultiplexTypingCooperative BehaviorLow copy numberLaboratoriesAllelesSNP arrayMicrosatellite RepeatsForensic science international. Genetics
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Forensic typing of autosomal SNPs with a 29 SNP-multiplex--results of a collaborative EDNAP exercise.

2008

We report the results of an inter-laboratory exercise on typing of autosomal single nucleotide polymorphisms (SNP) for forensic genetic investigations in crime cases. The European DNA Profiling Group (EDNAP), a working group under the International Society for Forensic Genetics (ISFG), organised the exercise. A total of 11 European and one US forensic genetic laboratories tested a subset of a 52 SNP-multiplex PCR kit developed by the SNPforID consortium. The 52 SNP-multiplex kit amplifies 52 DNA fragments with 52 autosomal SNP loci in one multiplex PCR. The 52 SNPs are detected in two separate single base extension (SBE) multiplex reactions with 29 and 23 SNPs, respectively, using SNaPshot …

GeneticsForensic GeneticsGenotypeElectrophoresis CapillarySingle-nucleotide polymorphismBiologySingle-base extensionDNA FingerprintingPolymerase Chain ReactionPolymorphism Single NucleotideUnited StatesPathology and Forensic MedicineSNP genotypingEuropeDNA profilingBlood StainsMultiplex polymerase chain reactionGeneticsSNPHumansMultiplexTypingLaboratoriesAllelesRepetitive Sequences Nucleic AcidForensic science international. Genetics
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Transcriptomic Signature of Trophoblast Differentiation in a Human Embryonic Stem Cell Model1

2011

Identification of genes involved in trophoblast differentiation is of great interest in understanding cellular and molecular mechanisms involved in placental development and is relevant clinically to fetal development, fertility, and maternal health. Herein, we investigated differentiation of human embryonic stem cells (hESCs) down the trophoblast lineage by culture with bone morphogenetic protein 4 (BMP4) over a 10-day period. Within 2 days, the stemness markers POU5F1 and NANOG were markedly down-regulated, followed temporally by up-regulation of the CDX2, KRT7, HLA-G, ID2, CGA, and CGB trophoblast markers. To understand, on a global scale, changes in the transcriptome during the differen…

GeneticsHomeobox protein NANOGCellular differentiationWnt signaling pathwayTrophoblastCell BiologyGeneral MedicineBiologyCell biologyGene expression profilingTranscriptomemedicine.anatomical_structureReproductive Medicineembryonic structuresmedicineStem cellDevelopmental biologyreproductive and urinary physiologyBiology of Reproduction
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Report of the European DNA profiling group (EDNAP)-an investigation of the hypervariable STR loci ACTBP2, APOAI1 and D11S554 and the compound loci D1…

1999

This paper describes the results of three collaborative exercises which continues the EDNAP theme to explore whether uniformity of DNA profiling results could be achieved between European laboratories using STRs. In an earlier exercise, complex hypervariable AAAG-repeat STR loci were investigated, but reproducibility was found to be poor because of the variation of techniques used by participating laboratories. In the exercise reported here, an internal allelic ladder composed of ACTBP2 and D11S554 fragments was distributed. This ladder was used to size ACTBP2 analysed by a "singleplex" PCR amplification and D11S554 combined with APOAI1 in a separate "duplex" reaction. Laboratories were ask…

GeneticsInternational CooperationBlood StainsImmunoglobulin Variable RegionReproducibility of ResultsMinisatellite RepeatsDNA SatelliteBiologyDNA FingerprintingPolymerase Chain ReactionPathology and Forensic Medicinelaw.inventionEuropeDNA profilingMulticenter studylawGenetic markerStr lociHumansMicrosatelliteLawAllelesSocieties MedicalPolymerase chain reactionForensic Science International
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Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature

1997

(1) The nomenclature of any STR follows from comparison with a control allelic ladder; availability of reference allelic ladders is central to any scheme. The components of an allelic ladder should be sequenced. (2) The DNA commission recommended a nomenclature based upon the number of repeat sequences present in an allele. Whereas this method is suitable for typing simple STRs, complex hypervariable repeats such as ACTBP2 do not conform to a simple repeating structure. We propose that designation of complex STR repeats such as ACTBP2, D11S554 and APOAI1 follows from the size of specific alleles. Because the size is dependant upon the primers utilised, the size is not definitive (it may als…

GeneticsLocus (genetics)DNASequence Analysis DNAForensic MedicineBiologyActinsPathology and Forensic MedicineEuropeType (biology)DNA profilingGenetic markerPolymorphism (computer science)Terminology as TopicHumansMicrosatelliteTypingAlleleLawSocieties MedicalRepetitive Sequences Nucleic AcidForensic Science International
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