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

• Type: Article in International Scientific Journal
• Date: 2001

Authors

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

Journal

Title: Human Biology

Vol. 73

Pages: 467-474

ISSN: 0018-7143

Publisher: Wayne State University Press

Indexing

ISI Web of Knowledge - 3 Citations

Scopus - 3 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8