Population genetics of four PKLR intragenic polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea)

Four intragenic PKLR polymorphisms [1705A/C, 1738C/T, T10/19, and (ATT)n mi crosatellite] were studied in normal population samples of Central Portugal and Sao Tome e Principe, a small archipelago located in the Gulf of Guinea , West Africa. For all loci, the observed genotype distributions do not dev iate from Hardy-Weinberg equilibrium. The allele frequencies found in the P ortuguese 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 Sao Tome e Principe the bia llelic polymorphisms 1705A/C, 1738C/T and T10/19 presented inverse allelic frequencies when compared with the Portuguese population. Two new alleles w ere found at the (ATT)n microsatellite. Significant statistical differences were found between both populations. The results showed that Sao Tomeans h ad higher haplotype diversity and lower linkage disequilibrium among the po lymorphic sites. The PKLR intragenic polymorphisms, commonly used in haplot ype analysis with the gene mutations in PK-deficient patients, can thus be successfully employed in anthropological genetics.