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Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)

LICÍNIO MANCO, ANA LUÍSA OLIVEIRA, CATARINA GOMES, ANDRÉ GRANJO, MARIA DE JESUS TROVOADA, M. LETÍCIA RIBEIRO, AUGUSTO ABADE and ANTÓNIO AMORIM
Human Biology
Vol. 73, No. 3 (June 2001), pp. 467-474
Stable URL: http://www.jstor.org/stable/41466817
Page Count: 8
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Since scans are not currently available to screen readers, please contact JSTOR User Support for access. We'll provide a PDF copy for your screen reader.
Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)
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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.

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