Molecular Biology Reports

, Volume 40, Issue 8, pp 4843–4849 | Cite as

Polymorphic genetic variation in immune system genes: a study of two populations of Espirito Santo, Brazil

  • Raquel Spinassé Dettogni
  • Ricardo Tristão Sá
  • Thaís Tristão Tovar
  • Iúri Drumond Louro


Mapping single nucleotide polymorphisms (SNPs) in genes potentially involved in immune responses may help understand the pathophysiology of infectious diseases in specific geographical regions. In this context, we have aimed to analyze the frequency of immunogenetic markers, focusing on genes CD209 (SNP -336A/G), FCγRIIa (SNP -131H/R), TNF-α (SNP -308A/G) and VDR (SNP Taq I) in two populations of the Espirito Santo State (ES), Brazil: general and Pomeranian populations. Peripheral blood genomic DNA was extracted from one hundred healthy individuals of the general population and from 59 Pomeranians. Polymorphic variant identification was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP). SNP genotype frequencies were in Hardy–Weinberg Equilibrium. There was no statistically significant difference in allelic and genotypic distributions between the two populations studied. Statistically significant differences were observed for SNP genotype distribution in genes CD209, TNF-α and VDR when comparing the ES populations with other Brazilian populations. This is the first report of CD209, FcγRIIa, TNF-α and VDR allelic frequencies for the general and Pomeranian populations of ES.


Polymorphisms Immune system Infectious diseases Espirito Santo-Brazil 



RSD was supported by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) and Fundação de Amparo à Pesquisa do Espírito Santo (FAPES) scholarships. This work was supported by FAPES.


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Raquel Spinassé Dettogni
    • 1
  • Ricardo Tristão Sá
    • 2
  • Thaís Tristão Tovar
    • 1
  • Iúri Drumond Louro
    • 1
  1. 1.Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e NaturaisUniversidade Federal do Espírito SantoVitóriaBrazil
  2. 2.Departamento de Clínica MédicaEscola Superior de Ciências da Santa Casa de Misericórdia de VitóriaVitóriaBrazil

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