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Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and Sao Tome e Principe (Gulf of Guinea)

2001; Wayne State University Press; Volume: 73; Issue: 3 Linguagem: Inglês

10.1353/hub.2001.0037

1534-6617

Licínio Manco, Ana Oliveira, Catarina Gomes, Andre Granjo, Maria de Jesus Trovoada, Letícia Ribeiro, Augusto Abade, António Amorim,

RNA regulation and disease

Four intragenic PKLR polymorphisms [1705A/C, 1738C/T, T10/19, and (ATT)n microsatellite] 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 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 Sao Tome e Principe 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 Sao 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.