Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. Export

@article{citeulike:3295066, abstract = {Ancestry informative markers (AIMs) are human polymorphisms that exhibit substantially allele frequency differences among populations. These markers can be useful to provide information about ancestry of samples which may be useful in predicting a perpetrator's ethnic origin to aid criminal investigations. Variations in human pigmentation are the most obvious phenotypes to distinguish individuals. It has been recently shown that the variation of a G in an A allele of the coding single-nucleotide polymorphism (SNP) rs1426654 within SLC24A5 gene varies in frequency among several population samples according to skin pigmentation. Because of these observations, the SLC24A5 locus has been evaluated as Ancestry Informative Region (AIR) by typing rs1426654 together with two additional intragenic markers (rs2555364 and rs16960620) in 471 unrelated individuals originating from three different continents (Africa, Asia and Europe). This study further supports the role of human SLC24A5 gene in skin pigmentation suggesting that variations in SLC24A5 haplotypes can correlate with human migration and ancestry. Furthermore, our data do reveal the utility of haplotype and combined unphased genotype analysis of SLC24A5 in predicting ancestry and provide a good example of usefulness of genetic characterization of larger regions, in addition to single polymorphisms, as candidates for population-specific sweeps in the ancestral population.}, author = {Giardina, Emiliano1 and Pietrangeli, Ilenia1 and Martinez-Labarga, Cristina2 and Martone, Claudia1 and Angelis, Flavio and Spinella, Aldo4 and De Stefano, Gianfranco2 and Rickards, Olga2 and Novelli, Giuseppe1}, citeulike-article-id = {3295066}, journal = {Current Genomics}, keywords = {aims, air, allele, ancestry, frequency, informative, markers, populations}, number = {2}, pages = {110+}, posted-at = {2008-09-19 19:15:28}, priority = {2}, title = {Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations.}, volume = {9} }

TY - JOUR ID - citeulike:3295066 L3 - citeulike-article-id:3295066 N2 - Ancestry informative markers (AIMs) are human polymorphisms that exhibit substantially allele frequency differences among populations. These markers can be useful to provide information about ancestry of samples which may be useful in predicting a perpetrator's ethnic origin to aid criminal investigations. Variations in human pigmentation are the most obvious phenotypes to distinguish individuals. It has been recently shown that the variation of a G in an A allele of the coding single-nucleotide polymorphism (SNP) rs1426654 within SLC24A5 gene varies in frequency among several population samples according to skin pigmentation. Because of these observations, the SLC24A5 locus has been evaluated as Ancestry Informative Region (AIR) by typing rs1426654 together with two additional intragenic markers (rs2555364 and rs16960620) in 471 unrelated individuals originating from three different continents (Africa, Asia and Europe). This study further supports the role of human SLC24A5 gene in skin pigmentation suggesting that variations in SLC24A5 haplotypes can correlate with human migration and ancestry. Furthermore, our data do reveal the utility of haplotype and combined unphased genotype analysis of SLC24A5 in predicting ancestry and provide a good example of usefulness of genetic characterization of larger regions, in addition to single polymorphisms, as candidates for population-specific sweeps in the ancestral population. IS - 2 JF - Current Genomics TI - Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. VL - 9 SP - 110 KW - aims KW - air KW - allele KW - ancestry KW - frequency KW - informative KW - markers KW - populations AU - Giardina, Emiliano1 AU - Pietrangeli, Ilenia1 AU - Martinez-Labarga, Cristina2 AU - Martone, Claudia1 AU - Angelis, Flavio AU - Spinella, Aldo4 AU - De Stefano, Gianfranco2 AU - Rickards, Olga2 AU - Novelli, Giuseppe1 ER -