IMBICE   05372
INSTITUTO MULTIDISCIPLINARIO DE BIOLOGIA CELULAR
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Genetic and phenotype variation of eye color in Buenos Aires population evaluated by current methods of analysis
Autor/es:
BRENDA BEZUS; JULIA RATOWIECKI; DIANA MARÍA HOHL; CECILIA INÉS CATANESI
Lugar:
Caxias do Sul
Reunión:
Otro; XIII curso de la Escuela Latinoamericana de Genética Humana y Médica (ELAG); 2017
Institución organizadora:
ELAG
Resumen:
Iris color is related to genetic variations which are important for DNA-based prediction of eye color.Our work attempts to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province, Argentina. We assessed the usefulness for our country of current methods ofanalysis used in European population. The population of Buenos Aires province can be considered as representative of Argentina because of its origin from different places along the country.We studied five Single Nucleotide Polymorphisms (SNPs) of different genes associated to eye color determination, in 118 individuals from Buenos Aires province: rs12913832 (HERC2), rs12203592 (IRF4), rs12896399 (SLC24A4), rs16891982 (SLC45A2) and rs1393350 (TYR) using allele-specific polymerase chain reaction (PCR) and Restriction Fragment Length Polymorphism (PCR-RFLP). These SNPs are included in the IrisPlex used in European population. For phenotype analysis, we photographed the individuals? irises with a digital camera (Nikon-Coolpix s3400), used the program Digital Iris Analysis Tool (DIAT, designed by Andersen et al.) to quantify eye color, and performed statistical analysis.The geneticmarkers 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 iris color (p