Variation in STR loci of the human myelin basic protein gene: North Portugal and São Tomé e Príncipe

• Autor(a) principal: Pereira, L
• Data de Publicação: 2000
• Outros Autores: Gusmão, L, Prata, MJ, Mota, P, Trovoada, MJ, Amorim, A
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10216/109272
• topic: MBP; linkage disequilibrium; single-nucleotide substitution; Population Genetics

Allele frequencies and a single-base substitution polymorphism for 3 short tandem repeat (STR) loci of the human myelin basic protein (MBP) gene were evaluated in North Portugal and São Tomé e Príncipe. Strong linkage disequilibrium between loci MBPB and MBPC was found. However, the patterns of nonrandom allelic associations were very different in the 2 populations: levels of haplotypic diversity and heterozygosity were higher in the São Tomé population. Similarly, a difference in the frequency of base substitution G-->A at position 124 was found: the frequency reached 4.1% in North Portugal and 0.5% in São Tomé. In both populations it was always found to be associated with haplotypes B10/C11 and B12/C9.