Skip to main content
Article
Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)
Human Biology
  • Licínio Manco, Departamento de Antropologia, Universidade de Coimbra, Coimbra, Portugal.
  • Ana Luísa Oliveira, Departamento de Antropologia, Universidade de Coimbra, Coimbra, Portugal.
  • Catarina Gomes, Departamento de Antropologia, Universidade de Coimbra, Coimbra, Portugal.
  • Maria De Jesus Trovoada, Departamento de Antropologia, Universidade de Coimbra, Coimbra, Portugal.
  • M. Letícia Ribeiro, Unidade de Hematologia Molecular, Centro Hospitalar de Coimbra, Coimbra, Portugal.
  • Augusto Abade, Departamento de Antropologia, Universidade de Coimbra, Coimbra, Portugal.
  • António Amorim, Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal., Faculdade de Ciências, Universidade do Porto, Porto, Portugal.
Document Type
Article
Abstract

Four intragenic PKLR polymorphisms [1705A/C, 1738C/T, T10/19, and (ATT)n microsatellite] were studied in normal population samples of Central Portugal and São Tomé e Príncipe, a small archipelago located in the Gulf of Guinea, West Africa. For all loci, the observed genotype distributions do not deviate from Hardy-Weinberg equilibrium. The allele frequencies found in the Portuguese population are similar to those previously described in Caucasian populations. Mother-child pair analysis for the (ATT)n microsatellite does not show deviations to the Mendelian rules. In São Tomé e Príncipe the biallelic polymorphisms 1705A/C, 1738C/T, and T10/19 presented inverse allelic frequencies when compared with the Portuguese population. Two new alleles were found at the (ATT)n microsatellite. Significant statistical differences were found between both populations. The results showed that São Tomeans had higher haplotype diversity and lower linkage disequilibrium among the polymorphic sites. The PKLR intragenic polymorphisms, commonly used in haplotype analysis with the gene mutations in PK-deficient patients, can thus be successfully employed in anthropological genetics.

Citation Information
Licínio Manco, Ana Luísa Oliveira, Catarina Gomes, Maria De Jesus Trovoada, et al.. "Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)"
Available at: http://works.bepress.com/aamorim/1/