Search results for "genotype phenotype correlation"

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The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.

0106 biological sciencesConservation geneticsMalegenotype phenotype correlationGorillaComputingMilieux_LEGALASPECTSOFCOMPUTINGarginineGenoma humà01 natural sciencesOculocutaneous albinism type 4single nucleotide polymorphismAlbinismegenetic variabilityGorillaInbreedinggenetic conservationGenetics0303 health sciencesGenomebiologyarticlecopy number variationHigh-Throughput Nucleotide SequencingSLC45A2 geneGenomicszygosityOculocutaneous albinismFloquet de neu (Goril·la)AlbinismFemaleBiotechnologyamino acid substitutionResearch ArticleSLC45A2Gorilla gorilla gorillaHeterozygoteAlbinismMolecular Sequence Datacomparative genomic hybridizationgene sequenceConservation010603 evolutionary biology03 medical and health sciencesWestern lowland gorillabiology.animalmedicineGeneticsheterozygosityAnimalsAmino Acid Sequencegene030304 developmental biologygene identificationWhole genome sequencingnonhumanGorilla gorillaMembrane Transport ProteinsSequence Analysis DNA15. Life on landbiology.organism_classificationmedicine.diseaseGenòmicaData_GENERALMutationbiology.proteinGenèticaoculocutaneous albinismglycineMicrosatellite RepeatsBMC Genomics
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Polymorphism of immunoglobulin enhancer element HS1,2A: allele *2 associates with systemic sclerosis. Comparison with HLA‐DR and DQ allele frequency

2007

OBJECTIVE: To investigate the relationship of the polymorphic enhancer HS1,2 central to the 3' enhancer complex regulatory region (IgH3'EC) of the immunoglobulin heavy chain genes with systemic sclerosis (SSc) disease and compare it with HLA-DR and DQ associations. METHODS: A total of 116 patients with SSc were classified as diffuse (dSSc) or limited (lSSc), and as carriers of antitopoisomerase I (anti-Scl70) or anticentromere (ACA) antibodies. Allele and genotype frequencies were assessed in the population as a whole and in the two major subsets, dSSc and lSSc. The concentration of peripheral blood immunoglobulin levels was also determined and analysed according to the genotypes. RESULTS: …

MaleSettore MED/16 - REUMATOLOGIAsystemic sclerosisclinical evaluationgenotype phenotype correlationHLA DR antigenSclerodermaGene FrequencyGenotypeImmunology and Allergycentromere antibody; HLA DR antigen; immunoglobulin enhancer binding protein; scl 70 antibody; adult; aged; article; clinical evaluation; controlled study; DNA polymorphism; female; gene frequency; genotype phenotype correlation; human; major clinical study; male; priority journal; risk factor; systemic sclerosis; Adult; Aged; Autoantibodies; Enhancer Elements (Genetics); Esophagus; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; HLA-DQ Antigens; HLA-DR Antigens; Humans; Immunoglobulin Heavy Chains; Male; Middle Aged; Phenotype; Polymorphism Genetic; Scleroderma Systemic; Statistics Nonparametric; Stomacheducation.field_of_studycentromere antibodyStatisticsStomacharticleMiddle AgedExtended Reportimmunoglobulin enhancer binding proteinEnhancer Elements GeneticPhenotypepriority journalrisk factorFemaleImmunoglobulin Heavy ChainsAdultGenotypeImmunologyPopulationBiologyGeneral Biochemistry Genetics and Molecular BiologyStatistics NonparametricEsophagusGeneticRheumatologyHLA-DQ AntigensHLA-DRHumanscontrolled studyEnhancer Elements (Genetics)NonparametricGenetic Predisposition to DiseasehumanPolymorphismAlleleeducationEnhancerAllele frequencyAgedAutoantibodiesscl 70 antibodyPolymorphism GeneticScleroderma SystemicSystemicHLA-DR Antigensmajor clinical studyGenotype frequencySettore BIO/18 - GeneticaDNA polymorphismImmunologyImmunoglobulin heavy chain
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