Search results for "microsatellite"

showing 10 items of 425 documents

IL 10.G microsatellites mark promoter haplotypes associated with protection against the development of reactive arthritis in Finnish patients.

2001

Objective To investigate the association of microsatellites and single-nucleotide promoter polymorphisms (SNPs) in the gene for the cytokine interleukin-10 (IL-10) with susceptibility to and outcome of reactive arthritis (ReA). Methods From genomic DNA, IL-10 microsatellites G and R and IL-10 promoter polymorphisms at positions −1087 and −524 were typed by polymerase chain reaction, automated fragment length analysis, and restriction fragment digestion in 85 Finnish patients with ReA and 62 HLA–B27–positive Finnish controls. ReA patients had been followed up for 20 years. Genotypes and haplotypes of IL-10 were correlated with distinct features of the disease course, such as triggering agent…

AdultMalemusculoskeletal diseasesGenetic LinkageImmunologySingle-nucleotide polymorphismArthritis ReactivePolymorphism Single NucleotideRestriction fragmentRheumatologyProhibitinsGenotypeHumansImmunology and AllergyPharmacology (medical)AllelePromoter Regions GeneticAllele frequencyFinlandGeneticsbiologyreactive arthritis IL-10 microsatellites polymorphismHaplotypeMiddle AgedInterleukin-10HaplotypesImmunologybiology.proteinMicrosatelliteFemaleRestriction fragment length polymorphismFollow-Up StudiesMicrosatellite Repeats
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De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

2010

International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …

AdultMalemusculoskeletal diseasesProbandMarfan syndromecongenital hereditary and neonatal diseases and abnormalitiesAdolescent[SDV]Life Sciences [q-bio]Fibrillin-1BiologyFibrillinsBioinformaticsPolymerase Chain ReactionMarfan SyndromeLoss of heterozygosity03 medical and health sciencesTransforming Growth Factor betaIntellectual DisabilityGeneticsmedicineHumansMultiplex ligation-dependent probe amplificationAlleleChildGeneIn Situ Hybridization FluorescenceGenetics (clinical)Oligonucleotide Array Sequence AnalysisSequence Deletion030304 developmental biologyGeneticsChromosomes Human Pair 15Comparative Genomic Hybridization0303 health sciencesMicrofilament Proteins030305 genetics & heredityGeneral Medicinemedicine.diseasePedigree3. Good healthPhenotypeMutationMicrosatelliteFemaleDNA ProbesHaploinsufficiencyMicrosatellite RepeatsEuropean Journal of Medical Genetics
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The Sicilian rock partridge: latest data on genetic integrity from four different relict areas

2021

Sicily (Italy) hosts a “relict”, endemic population of the birds Alectoris graeca whitakeri commonly known as Sicilian Rock Partridge. In the last decades, due to the risk of restocking with other European and Asiatic species for hunting purpose, a study was carried out to investigate the potential risk of hybridisation. The mtDNA control-region and nuclear microsatellites were genotyped. Due to the importance of the species, samples were mainly characterized by feather and stool samples, and rarely by carcasses found in the environment, from year 2011 to 2012. A panel of 7 microsatellite loci was validated. Three multiplexes that allowed the simultaneous amplification of 3 microsatellites,…

AlectorisbiologySettore BIO/05 - Zoologiabiology.organism_classificationArchaeologyGenetic diversitylanguage.human_languageRock partridgeSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoGeographylanguageAnimal Science and ZoologyMicrosatellitesSicilySicilianTURKISH JOURNAL OF ZOOLOGY
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Les ambroisies annuelles (Ambrosia artemisiifolia et Ambrosia trifida) : réponse adaptative au désherbage chimique et connectivité des populations da…

2018

The primary aim of this work was to study the risk of resistance evolution to acetolactate synthase (ALS) inhibiting herbicides in mugwort (Ambrosia artemisiifolia L.) through four points: (i) selection pressure (study of the efficacy of a range of ALS-inhibiting herbicides), (ii) the adaptive response capacity of the weed (determination of the variation in sensitivity to ALS inhibitors between plants and implementation of a recurrent selection programme), (iii) a field study (search for resistance to ALS inhibitors in the field in France), (iv) the study of resistance mechanisms (target-linked - TLR - and non-target-linked - NLR - by a transcriptomics approach). The second objective was to…

Ambrosia artemisiifolia L.ambroisiesinhibiteurs de l’ALSmarqueurs microsatellites[SDE] Environmental SciencesALS inhibitors[SDE]Environmental Sciencesherbicide resistanceflux de gènesrésistance aux herbicidesmicrosatellite markersgene flowragweed
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Isolation and characterization of 8 microsatellite loci for the "killer shrimp'', an invasive Ponto-Caspian amphipod Dikerogammarus villosus (Crustac…

2015

5 pages; International audience; Dikerogammarus villosus is a freshwater amphipod of the Ponto-Caspian origin recognized as one of the 100 worst alien species in Europe, having negative impact on biodiversity and functioning of the invaded aquatic ecosystems. The species has a wide ecophysiological tolerance and during the last 20 years it has rapidly spread throughout European inland waters. In consequence, it presents a major conservation management problem. We describe eight polymorphic microsatellite loci developed for D. villosus by combining a biotin-enrichment protocol and new generation 454GS-FLX Titanium pyrosequencing technology. When genotyped in 64 individuals from two locations…

AmphipodaPopulation geneticsBiodiversityPopulation geneticsIntroduced species[SDV.BID]Life Sciences [q-bio]/BiodiversityBiologyArticleInvasive speciesDikerogammarus villosusPolymorphic lociGene FrequencyGeneticsAnimalsAmphipoda14. Life underwaterBiological invasionsMolecular BiologyAlleles[ SDV.BID ] Life Sciences [q-bio]/Biodiversity[ SDE.BE ] Environmental Sciences/Biodiversity and EcologyPolymorphism GeneticInvasive speciesEcologyDikerogammarus villosus[ SDV.GEN.GA ] Life Sciences [q-bio]/Genetics/Animal geneticsDNAGeneral Medicinebiology.organism_classificationShrimp[SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal geneticsGenetic LociMicrosatellite[SDE.BE]Environmental Sciences/Biodiversity and EcologyMicrosatellite Repeats
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Effect of number of seed parents on the genetic diversity of artificially regenerated stands of holm oak

2007

Artificial populations of holm oak (Quercus ilex L. s.l.) and their natural seed origin populations selected from Andalusia (Southern Spain) and Sicily (Southern Italy) were analysed with six nuclear microsatellite loci to explore the effect of seed collection methods. Low effective allele numbers (3.07-6.67) and extremely low effective populations sizes (35.4-102.9) were detected in both reforestation stands, probably due to an inappropriate forester seed collection strategy limited to a few mother trees. Analysis of simulated progenies showed that optimal sampling size to obtain seed collections genetically similar to the origin populations should range from 20 to 50 individuals, but coul…

Andalusia microsatellite loci population reforestation seed origin SicilySettore BIO/02 - Botanica Sistematica
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Comparison of MALDI-TOF mass spectra with microsatellite length polymorphisms inCandida albicans

2015

Candida albicans is the most frequent yeast involved in human infections. Its population structure can be divided into several genetic clades, some of which have been associated with antifungal susceptibility. Therefore, detecting and monitoring fungal clones in a routine laboratory setting would be a major epidemiological advance. Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectra results are now widely used as bar codes to identify microorganisms in clinical microbiology laboratories. This study aimed at testing MALDI-TOF mass spectra bar codes to identify clades among a set of C. albicans isolates. Accordingly, 102 clinical strains were genotyped using 10…

AntifungalGenetics0303 health sciencesbiology030306 microbiologymedicine.drug_classChemistryDendrogrambiology.organism_classificationMass spectrometryCorpus albicans3. Good health03 medical and health sciencesmedicineMass spectrumMicrosatelliteCandida albicansCladeSpectroscopy030304 developmental biologyJournal of Mass Spectrometry
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Large-scale gene discovery in the pea aphid Acyrthosiphon pisum (Hemiptera)

2006

A large-scale sequencing analysis of the Hemiptera Acyrthosiphon pisumexpressed sequence tags corresponding to about 12,000 unique transcripts is described, along with an in silico profiling analysis that identifies 135 aphid tissue-specific transcripts.

Aphid SpeciesDNA ComplementaryTranscription GeneticMethodacyrthosiphon pisumAdditional Data FileséquençageAnimals[SDV.BV]Life Sciences [q-bio]/Vegetal BiologyPhylogenyCodon PositionGene LibraryPlant DiseasesExpressed Sequence TagsPopulation DensityBase CompositionBase SequencegènefungiPeasfood and beveragesDNAbiochemical phenomena metabolism and nutrition[SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]Gene OntologycDNA LibrarypuceronAphids[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]Microsatellite Repeats
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Biomolecular study of the human remains from tomb 5859 in the Etruscan necropolis of Monterozzi Tarquinia (Vitarbo, Italy)

2004

Abstract Archaeological excavation in an Etruscan room tomb, from the Monterozzi necropolis in Tarquinia led to the recovery of four individuals. It was hypothesized that they could be members of a single family group. As both archaeological data and classical anthropological analysis provided little information in this direction, ancient DNA (aDNA) was extracted from bone and tooth fragments of the individuals. For each subject HVR-I of the mitochondrial DNA (mtDNA) was cloned and sequenced. To identify the sex of the individuals, amelogenine and SRY genes were analysed. Short tandem repeat (STR) characterization was also performed. DNA studies were preceded by the evaluation of amino acid…

ArcheologyMitochondrial DNATestis determining factorAncient DNAFamily groupEvolutionary biologyLineage (evolution)MicrosatelliteItalia preromana; DNA antico; studi di genereBiologyArchaeologySingle family
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Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families.

2011

Asian originMaleNerve Tissue ProteinsBiologyDentatorubral-pallidoluysian atrophyPolymorphism Single NucleotideGeneticAsian PeoplePolymorphism (computer science)medicineHumansGenetic Association StudiesFamily healthGeneticsFamily HealthDentatorubral-pallidoluysian atrophyHaplotypemedicine.diseaseMyoclonic Epilepsies ProgressiveItalian familiesNeurologyHaplotypesItalySettore MED/26 - NeurologiaFemaleNeurology (clinical)Microsatellite RepeatsMovement disorders : official journal of the Movement Disorder Society
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