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Genetic profile of the Iberian Peninsula population : contributions of AIMs

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Bibliographic Details
Summary:Ancestry informative markers (AIMs) are a type of single nucleotide polymorphism (SNP) used to establish the probability of an individual biogeographical ancestry, as they occur at different frequencies on each population. The aims of this study are: chapter 1) to select European AIMs that would allow to differentiate Iberian populations and design and validate primers that allow to analyse the selected AIMs by High Resolution Melting (HRM); chapter 2) to preliminarily genetically characterize three Iberian populations using selected SNPs. For these purposes, twenty-six SNPs were selected in order to capture a north-south genetic gradient observed in Europe and the influence of Sephardic Jews. For the selected SNPs, primers which would allow the amplification of the region that contained the SNP were design. From the initial group, five SNPs were selected and the primers tested in the laboratory, PCR conditions were optimized and then used for analyses by HRM. In chapter two, three SNPs were genotyped using HRM methodology in three specific Iberian populations, namely, Catalonia, Andalucia and Zamora. The data obtained was then compared to data of other populations already available. This preliminary study allows a glimpse of a possible European north-south axis in the Peninsula, nevertheless an extended work has to be performed using all the selected SNPs and including more Iberian populations.
Main Authors:Azevedo, Ana Cláudia Moreira
Subject:Ciências Naturais::Ciências Biológicas
Year:2014
Country:Portugal
Document type:master thesis
Access type:open access
Associated institution:Universidade do Minho
Language:English
Origin:RepositóriUM - Universidade do Minho
Description
Summary:Ancestry informative markers (AIMs) are a type of single nucleotide polymorphism (SNP) used to establish the probability of an individual biogeographical ancestry, as they occur at different frequencies on each population. The aims of this study are: chapter 1) to select European AIMs that would allow to differentiate Iberian populations and design and validate primers that allow to analyse the selected AIMs by High Resolution Melting (HRM); chapter 2) to preliminarily genetically characterize three Iberian populations using selected SNPs. For these purposes, twenty-six SNPs were selected in order to capture a north-south genetic gradient observed in Europe and the influence of Sephardic Jews. For the selected SNPs, primers which would allow the amplification of the region that contained the SNP were design. From the initial group, five SNPs were selected and the primers tested in the laboratory, PCR conditions were optimized and then used for analyses by HRM. In chapter two, three SNPs were genotyped using HRM methodology in three specific Iberian populations, namely, Catalonia, Andalucia and Zamora. The data obtained was then compared to data of other populations already available. This preliminary study allows a glimpse of a possible European north-south axis in the Peninsula, nevertheless an extended work has to be performed using all the selected SNPs and including more Iberian populations.