The Lewis Histo-Blood Group System: Molecular Analysis of the 59T>G, 508G>A, and 1067T>A Polymorphisms in an Amazonian Population
| Autor: | Danielle C. Brito, Rosane do Socorro Pompeu de Loiola, Délia Cristina Figueira Aguiar, Tereza Cristina de Oliveira Corvelo, Gyselly de Cássia Bastos de Matos |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Heredity Anatomy and Physiology Genotype Hemagglutination Population lcsh:Medicine Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Young Adult Lewis Blood Group Antigens Diagnostic Medicine Immune Physiology Genetics Pathology Humans Antigens Allele lcsh:Science education Genetic association education.field_of_study Polymorphism Genetic Multidisciplinary Population Biology lcsh:R Haplotype Fucosyltransferases Molecular biology Null allele Phenotypes Mutation Genetic Polymorphism Medicine lcsh:Q Female Population Genetics Biomarkers Research Article General Pathology |
| Zdroj: | PLoS ONE PLoS ONE, Vol 8, Iss 7, p e69908 (2013) |
| ISSN: | 1932-6203 |
| Popis: | Background The Lewis (FUT3) gene is responsible for the expression of the Lea and Leb blood group antigens. The individuals, who not synthesize these antigens have the phenotype Lewis negative, due to the presence of some single nucleotide polymorphisms (SNPs), such as 59T>G, 508G>A and 1067T>A, whose distribution is different in various ethnic groups. Our aim was to verify the frequencies of these SNPs in an admixed population of Belem-Para-Brazil. Materials and Methods Polymerase chain reaction/restriction enzyme method were used to detect these SNPs in the FUT3 gene, whereas Lewis phenotypes were defined by the direct hemagglutination and in saliva by Dot-Elisa assay in a random sample of 150 individuals from admixed population of Belem in the northeast Brazilian Amazon region. Results The frequency of these SNPs was detected as 47.6% (59T>G), 17.3% (508G>A) and 5.3% (1067T>A).The discrepancies between blood and salivary Lewis phenotypes are related to the relatively high frequencies of 59T>G and the null allele 508G>A. Whereas 38.6% of the individuals were Lewis negative based on blood, only 17.24% also tested negative when their saliva were analyzed. Conclusion We have found a marked consistency between the phenotypes and genotypes of the Lewis blood group system. Furthermore, our obtained FST values reveal distinct frequencies of the FUT3 SNPs between the present sample and its representative ancestral populations. These observations will help to evaluate the Lewis antigens impact as susceptibility markers, in genetic association studies to certain diseases. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|