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Revista Colombiana de Antropología

versão impressa ISSN 0486-6525

Resumo

ARIAS P, WILLIAM H et al. THE ORIGIN OF THE G736A MUTATION OF PARKIN GENE IN PEQUE (NORTHWEST OF ANTIOQUIA). Rev. colomb. antropol. [online]. 2012, vol.48, n.1, pp.81-95. ISSN 0486-6525.

In a large family from Peque population (Antioquia), there have been found some individuals affected with juvenile Parkinson's disease, due to the G736A mutation located in exon 6 of the PARK2 gene. As a result of the tri-ethnic composition of our mixed populations and that this mutation was reported in Spain, our goal was to find the origin of this mutation. We typified molecular markers on the Y chromosome in 132 unrelated individuals from the general population and 31 of the family; in addition the records of surnames in two periods were also analyzed. The mutation was exclusively found in families where only one haplotype was European (haplogroup P) named Valle, and one native haplotype (Q1a3a) named Salas G736A, the mutation carriers. The mutation G736A, joined by European founders (P) named Valle, increased its frequency due to a founder effect, internal growth and inbreeding in the family but not in the total population and it expanded in a Native American context (Q1a3a) named Salas.

Palavras-chave : Peque; PARK2 gene; Isonimy; Parkinson's disease.

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