Search results for "Haplotype frequency"

showing 3 items of 3 documents

HLA Class I and Class II Polymorphism in Three Sicilian Populations

2007

Two human leukocyte antigen (HLA) class I loci (HLA-A and HLA-B) and one class II locus (HLA-DR) were typed at the DNA level in the Sicilian population. Study participants were of Sicilian origin (183 for class I loci and 260 for class II loci) and live in three towns, chosen on the basis of geographic position and different historical events. These towns are Sciacca (southwest Sicily, located at sea level, conquered by Arabs in a.d. 814), Piana degli Albanesi (northwest Sicily, 720 m above sea level, has maintained religious, cultural, and linguistic peculiarities traced to Albanian settlement in 1488), and Troina (northeast Sicily, 1,120 m above sea level, known as the first settlement of…

AdultMalePopulationLocus (genetics)Human leukocyte antigenLinkage DisequilibriumGene FrequencyGeneticsHumansAlleleeducationSicilyAllele frequencyAllelesGenetics (clinical)Ecology Evolution Behavior and Systematicseducation.field_of_studyPolymorphism GeneticHLA-A AntigensGenetic VariationHLA-DR Antigenslanguage.human_languageGenetics PopulationHaplotypesHLA-B AntigensChild PreschoolGenetic structurelanguageEthnologyFemalePhoenicianDNA typing haplotype frequency HLA polymorphism sicilian populationSicilianHLA-DRB1 ChainsDemographyHuman Biology
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Prion protein gene frequencies in three Sicilian dairy sheep populations

2008

The objective of this paper was to investigate the prion protein (PrP) genotype and haplotype frequencies in three Sicilian dairy sheep populations. The three populations were: (1) 1096 Valle del Belice animals, (2) 1143 Comisana animals, and (3) 1771 individuals from 5 flocks with scrapie outbreaks, in which the animals were crossbreds derived from indigenous Sicilian dairy breeds. PrP genotypes are described for the three codons 136 (Alanine or Valine; A, V), 154 (Histidine or Arginine; H, R), and 171 (Glutamine, Arginine or Histidine; Q, R, H) which represent polymorphisms known to be linked with scrapie susceptibility. The Valle del Belice haplotype frequencies were 32.3% ARR, 6.5% AHQ,…

GeneticsPrPsheep040301 veterinary sciencesHaplotype frequency Prion protein Scrapie Sheep.Haplotype0402 animal and dairy scienceOutbreakScrapie04 agricultural and veterinary sciencesBiology040201 dairy & animal science0403 veterinary scienceSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoValineGenotypeAnimal Science and ZoologyfrequencieFlocklcsh:Animal culturePrion proteinGenelcsh:SF1-1100
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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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