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Genetic and phenotypic variability of iris color in Buenos Aires population Genet. Mol. Biol.
Hohl,Diana María; Bezus,Brenda; Ratowiecki,Julia; Catanesi,Cecilia Inés.
Abstract The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Population genetics; Iris color; Forensic genetics; Phenotype determination; Argentinian population.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100050
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Human population genetic structure detected by pain-related mu opioid receptor gene polymorphisms Genet. Mol. Biol.
López Soto,Eduardo Javier; Catanesi,Cecilia Inés.
Several single nucleotide polymorphisms (SNPs) in the Mu Opioid Receptor gene (OPRM1) have been identified and associated with a wide variety of clinical phenotypes related both to pain sensitivity and analgesic requirements. The A118G and other potentially functional OPRM1 SNPs show significant differences in their allele distributions among populations. However, they have not been properly addressed in a population genetic analysis. Population stratification could lead to erroneous conclusions when they are not taken into account in association studies. The aim of our study was to analyze OPRM1 SNP variability by comparing population samples of the International Hap Map database and to analyze a new population sample from the city of Corrientes,...
Tipo: Info:eu-repo/semantics/report Palavras-chave: OPRM1; SNPs; A118G; AMOVA; Population genetics.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000200152
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