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

• Tipo: Artigo em Revista Científica Internacional
• Data: 2001

Autores

Manco, L (Autor) Outra; Oliveira, AL (Autor) Outra; Gomes, C (Autor) Outra; Granjo, A (Autor) Outra; Trovoada, MD (Autor) Outra; Ribeiro, ML (Autor) Outra; Abade, A (Autor) Outra; Amorim, A (Autor) FCUP

Revista

Título: Human Biology

Vol. 73

Páginas: 467-474

ISSN: 0018-7143

Editora: Wayne State University Press

Indexação

ISI Web of Knowledge - 3 Citações

Scopus - 3 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências biológicas

Outras Informações

ID Authenticus: P-000-VAT

DOI: 10.1353/hub.2001.0037

Abstract (EN): 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 8