Search results for "Chromosome Mapping"

showing 10 items of 193 documents

Population differences in the International Multi-Centre ADHD Gene Project.

2008

Contains fulltext : 71443.pdf (Publisher’s version ) (Closed access) The International Multi-Centre ADHD Gene sample consists of 674 families from eight countries (Belgium, England, Germany, Holland, Ireland, Israel, Spain, and Switzerland) ascertained from clinics for combined-type attention definity hyperactivity disorder in an offspring. 863 SNPs were successfully genotyped across 47 autosomal genes implicated in psychiatric disorders yielding a single nucleotide polymorphism (SNP) density of approximately one SNP per 2.5 kb. A global test of heterogeneity showed 269 SNPs nominally significant (expected 43). Inclusion of the Israeli population accounted for approximately 70% of these nom…

MaleLinkage disequilibriumInternationalityGenetics and epigenetic pathways of disease [NCMLS 6]EpidemiologyMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium0302 clinical medicineGene FrequencyPerception and Action [DCN 1]International HapMap ProjectIsraelChildGenetics (clinical)0303 health scienceseducation.field_of_studyChromosome MappingSDG 10 - Reduced Inequalities10058 Department of Child and Adolescent PsychiatryGeographyChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/reduced_inequalitiesFemaleFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)AdolescentPopulationSample (statistics)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideWhite PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCognitive neurosciences [UMCN 3.2]SNPHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendalterseducationGene030304 developmental biologyGenetic VariationGenetics PopulationGenetic defects of metabolism [UMCN 5.1]HaplotypesSample size determinationAttention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryDemography2713 Epidemiology
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Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approa…

2010

Contains fulltext : 88211.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach. METHOD: Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom sc…

MaleMedizinGenome-wide association studyComorbidityPersonality Assessment0302 clinical medicineDevelopmental and Educational PsychologyPerception and Action [DCN 1]GENETIC INFLUENCESChildGENERAL-POPULATION0303 health sciencesMental Health [NCEBP 9]CommunicationChromosome MappingPsychiatry and Mental healthcomorbidityAutism spectrum disorderFemalePsychologylinkageFunctional Neurogenomics [DCN 2]TRAITSmedicine.medical_specialtyAdolescentPsychometricsSUSCEPTIBILITY LOCIDEFICIT HYPERACTIVITY DISORDERQuantitative Trait Lociautism spectrum disorderQuantitative trait locusPolymorphism Single Nucleotidebehavioral disciplines and activitiesArticleTWIN SAMPLEGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesGenetic linkagemental disordersmedicinePervasive developmental disorderAttention deficit hyperactivity disorderADHDHumansGenetic Predisposition to DiseaseGenetic TestingSOCIAL-BEHAVIORPsychiatrySocial Behavior030304 developmental biologyChromosome AberrationsChromosomes Human Pair 15PERVASIVE DEVELOPMENTAL DISORDERSmedicine.diseaseHOMEOBOX-TRANSCRIPTION-FACTORDevelopmental disorderAttention Deficit Disorder with HyperactivityChild Development Disorders PervasiveAutismLod ScoreChromosomes Human Pair 18030217 neurology & neurosurgeryChromosomes Human Pair 16SCANGenome-Wide Association Study
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Mapping of genetic loci that change pheromone discrimination in Drosophila males

2002

0016-6723 (Print) Comparative Study Journal Article Research Support, Non-U.S. Gov't; Reproduction in individual animals of sexual species depends largely upon their ability to detect and distinguish specific signal(s) among those produced by various potential sexual partners. In Drosophila melanogaster males, there is a natural polymorphism for discrimination of female and male principal pheromones that segregates with chromosome 3. We have mapped two loci on chromosome 3 that change sex-pheromone discrimination in males. We successively exploited meiotic recombination, deficiencies and enhancer-trap strains; excision of the transposon in two selected enhancer-trap strains clearly reverted…

MalePheromones/*geneticsSexual BehaviorChromosomes/geneticsChromosome MappingRecombinationDNA Transposable Elements/geneticsSmellPhenotypeGeneticChromosome SegregationAnimal/*physiologyAnimalsDrosophila melanogaster/*geneticsFemale
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Genetic control of pheromones in Drosophila simulans. II. kete, a locus on the X chromosome

1993

0016-6731 (Print) Journal Article; The production of Drosophila cuticular hydrocarbons, including contact pheromones, is under polygenic control. To investigate X-linked loci, EMS mutations were induced in Drosophila simulans flies. A mutant strain was discovered which in both sexes show a reduction in the biosynthesis of both 7-tricosene (7-T) the species contact pheromone and all other linear hydrocarbons. The locus controlling this effect, kete, is recessive and was localized to I, 18.5. Unlike a previously identified gene on the second chromosome of this species, Ngbo, kete does not affect the ratio of 7-T:7-pentacosene (7-P). Other reproductive characteristics are also affected, includ…

MalePheromones/*geneticsanimal structuresX ChromosomeAnimalSexual BehaviorfungiLinkage (Genetics)Chromosome MappingVariation (Genetics)CrossesReproduction/geneticsDrosophila/*genetics/metabolismGeneticMutagenesisHydrocarbons/metabolismAnimalsFemale
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A microsatellite linkage map forDrosophila montanashows large variation in recombination rates, and a courtship song trait maps to an area of low rec…

2009

Current advances in genetic analysis are opening up our knowledge of the genetics of species differences, but challenges remain, particularly for out-bred natural populations. We constructed a microsatellite-based linkage map for two out-bred lines of Drosophila montana derived from divergent populations by taking advantage of the Drosophila virilis genome and available cytological maps of both species. Although the placement of markers was quite consistent with cytological predictions, the map indicated large heterogeneity in recombination rates along chromosomes. We also performed a quantitative trait locus (QTL) analysis on a courtship song character (carrier frequency), which differs be…

MaleRecombination GeneticGeneticsbiologyQuantitative Trait LociChromosome MappingGenomicsQuantitative trait locusbiology.organism_classificationGenetic analysisAnimal CommunicationDrosophila virilisSexual Behavior AnimalGene mappingEvolutionary biologyGenetic linkageGenetic markerChromosome InversionAnimalsMicrosatelliteDrosophilaFemaleEcology Evolution Behavior and SystematicsMicrosatellite RepeatsJournal of Evolutionary Biology
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A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.

2007

DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium (LD) mapping in a set of Finnish families. The observed association was replicated in an independent set of 251 German families. Two overlapping risk haplotypes spanning 16 kb were identified in both sample sets separately as well as in a joint analysis. In the German sample set, the odds ratio for the most significantly associated haplotype increased with dyslexia severity from 2.2 to 5.2. The risk haplotypes are located in an intergenic region between FLJ13391 and MRPL19/C2ORF3. As no novel genes could be cloned from this region, we hy…

MaleRibosomal ProteinsCandidate geneLinkage disequilibriumHeterozygoteTranscription GeneticLocus (genetics)BiologyPolymorphism Single NucleotideLinkage DisequilibriumDyslexiaEvolution MolecularMitochondrial Proteins03 medical and health sciences0302 clinical medicineIntergenic regionGene mappingDCDC2GermanyGeneticsmedicineAnimalsHumansFamilyMolecular BiologyGenetics (clinical)FinlandPhylogeny030304 developmental biologyGenetics0303 health sciencesHaplotypeDyslexiaBrainChromosome MappingGeneral Medicinemedicine.diseaseRepressor ProteinsPhenotypeHaplotypesChromosomes Human Pair 2Female030217 neurology & neurosurgeryHuman molecular genetics
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DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

2001

During the past few years, the DNA Commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area - namely, Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.

MaleSocieties ScientificISFGDNA CommissionPopulationLibrary scienceGuidelines as TopicPaternityCommissionBiologySTRY chromosome01 natural sciencesPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineTerminology as TopicY ChromosomeHumans030216 legal & forensic medicineeducationY-chromosomeAlleles030304 developmental biologyGeneticsInternet0303 health scienceseducation.field_of_studyPolymorphism Genetic010401 analytical chemistryDna polymorphismInternational AgenciesChromosome MappingDNAForensic MedicineSettore MED/43 - MEDICINA LEGALE0104 chemical sciencesForensic scienceGenetics PopulationDatabases as TopicTandem Repeat SequencesMutationMicrosatelliteIdentification (biology)LawForensic geneticsInternational Journal of Legal Medicine
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The time course of recombinant production in Streptomyces coelicolor.

1971

SUMMARYThe process leading to gene recombination can be interrupted in the filamentous bacteriaStreptomyces coelicolorby growing mixed cultures on cellophane disks lying on complete medium. The mycelium is harvested, broken, diluted and the broken hyphae plated at different time intervals. By this means some markers can be excluded from heteroclones or from recombinant progeny in early samples. The recombinant pattern clearly changes with time, with an increase of markers contributed to the recombinant progeny. In crosses between male (NF) and female (UF) strains, the maleness is the first donor trait to appear in the cells of the recipient parent. The fertility factor does not produce a tr…

MaleTime FactorsHyphaBiologyGenetic recombinationlaw.inventionlawGeneticsMyceliumCrosses GeneticInfertility MaleRecombination GeneticSpores BacterialFertility factor (bacteria)fungiStreptomyces coelicolorChromosomeChromosome MappingGeneral MedicineChromosomes Bacterialbiology.organism_classificationMolecular biologyStreptomycesSporePhenotypeConjugation GeneticMutationRecombinant DNAGenetical research
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The human X chromosome is enriched for germline genes expressed in premeiotic germ cells of both sexes.

2006

The role of X-chromosomal genes in spermatogenesis has been subject to a number of studies in different organisms. Recently, it was proposed that the X chromosome has a predominant role in premeiotic stages of mammalian spermatogenesis. We analyzed the expression of a representative set of 17 X-linked and 48 autosomal germline-restricted genes in different stages of human germ cell development. In accordance with data from other species, we show that the human X chromosome is indeed significantly enriched for genes activated in premeiotic stages of spermatogenesis. In contrast to recent studies, however, we found that expression of these genes is not restricted to spermatogenesis, but is ac…

MaleTranscriptional ActivationGene DosageBiologyChromatin remodelingGametogenesisOogenesisGeneticsmedicineChromosomes HumanCluster AnalysisHumansSpermatogenesisMolecular BiologyGeneSkewed X-inactivationGenetics (clinical)X chromosomeCells CulturedRegulation of gene expressionGeneticsChromosomes Human XDosage compensationChromosome MappingGeneral MedicineDNA MethylationMeiosismedicine.anatomical_structureGerm CellsGene Expression RegulationDNA methylationFemaleGerm cellHuman molecular genetics
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USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

2002

Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of vestibular dysfunction. Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations. Expression of Ush3a transcripts was localised by whole mount in situ hybridisation to cochlear hair cells and spiral ganglion cells. The full length USH3A transcript encodes clarin-1, a four-transmembrane-domain protein…

MaleUsher syndromeMolecular Sequence DataBiologyPhotoreceptor cellSynapse03 medical and health sciencesExonMice0302 clinical medicineSequence Analysis ProteinRetinitis pigmentosaHair Cells Auditoryotorhinolaryngologic diseasesGeneticsmedicineAnimalsHumansAmino Acid SequenceGenetics (clinical)Spiral ganglionIn Situ HybridizationPhylogeny030304 developmental biology0303 health sciencesGene Expression ProfilingChromosome MappingMembrane ProteinsSequence Analysis DNAmedicine.diseaseCell biologyPedigreeTransmembrane domainmedicine.anatomical_structureMutationSynapsesFemalesense organsHair cellCalcium ChannelsSequence Alignment030217 neurology & neurosurgeryEuropean journal of human genetics : EJHG
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