The Y-chromosome short tandem repeats variation within haplogroup E3b: evidence of recurrent mutation in SNP

• Autor(a) principal: Fernandes, A. T.
• Data de Publicação: 2008
• Outros Autores: Rosa, A., Gonçalves, R., Jesus, José, Brehm, 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/10400.13/3677
• topic: Mutation in SNP; Y-Chromosome; Haplogroup E3b; .; Faculdade de Ciências da Vida

Haplogroup E3b is defined by a single nucleotide mutation (SNP) in locus M35 and is found at high fre quency (more than 35%) in populations from North Africa with a heterogeneous distribution. On the basis of compilation of 553 Y-chromosomes from Europe and 633 from sub-Saharan Africa we selected 130 individuals belonging to haplogroup E3b and characterized subhaplogroups according to the Y-Chromosome Consortium nomenclature. Y-chromosome haplo types can be defined using short tandem repeats (STR). The use of STRs makes it possible to measure diversity and esti mate age coalescence. Significant differences on frequencies of Y-chromosome STR loci were found among the E3b sub haplogroups and the same was observed when haplotype frequencies were considered. Some mutations in SNPs were detected when comparing E3b subhaplogroups with the correspondent STR haplotypes. These results show that the mutation rate for some SNPs could be higher than previously thought and also that it is important to associate both haplo type and haplogroup in Y-chromosome studies