Search results for "haplotype analysis"

showing 3 items of 3 documents

4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).

2007

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…

MaleBRCA1 gene Founder mutation Haplotype analysis Hereditary breast and ovarian cancer Sicilian patientsSettore MED/06 - Oncologia MedicaGenetic counselingPopulationDNA Mutational AnalysisGenes BRCA1Single-nucleotide polymorphismBreast NeoplasmsBiologyBRCA1 geneHaplotype analysiHumansAlleleeducationAllelotypeFounder mutationSicilyGeneticsOvarian Neoplasmseducation.field_of_studyHaplotypeHematologylanguage.human_languageFounder EffectPedigreeOncologyHaplotypesHaplotype frequencylanguageFemaleSicilianGene DeletionFounder effectGenetic counselingMicrosatellite Repeats
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COMPARISON OF CLINICAL AND LABORATORY DATA, INCLUDING JAK-2 46/1 HAPLOTYPE, BETWEEN PATIENTS WITH IDIOPATHIC ERYTHROCYTOSIS AND POLYCYTHEMIA VERA.

2017

Polycythemia vera Haplotype analysis erythrocytosis
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Population genetics on Ambrosia genus: past, present and future

2014

National audience; A new Task Force within the COST-SMARTER has recently been created. This group is composed of population genetics experts from five European countries in charge of focusing on “Genetics on Ambrosia” (Austria, France, Germany, Hungary, Sweden). Their mission was to review molecular methods used in published genetics studies on common ragweed and to discuss about future projects. Two different types of molecular markers are generally used in the literature to investigate the genetic structure within and between introduced and/or native populations of common ragweed: microsatellite markers and amplified fragment length polymorphism (AFLP). These methods permit the researcher…

[SDV] Life Sciences [q-bio][SDE] Environmental Sciencestranscriptomic analysesAFLPhaplotype analysis[SDV]Life Sciences [q-bio][SDE]Environmental Sciencespopulation genetics[SDV.BV]Life Sciences [q-bio]/Vegetal Biology[SDV.BV] Life Sciences [q-bio]/Vegetal BiologyAmbrosiamicrosatellite markers
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