Resultados preliminares de la estimación de la tasa de mutación del DNA mitocondrial en genealogías humanas de las Islas Azores (Portugal)

C. Santos; M. Lima; R. Montiel; C. Bettencourt; C. Silva; Augusto Abade; M.P. Aluja

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Resultados preliminares de la estimación de la tasa de mutación del DNA mitocondrial en genealogías humanas de las Islas Azores (Portugal)

C. Santos ^[1] ; M. Lima ^[2] ; R. Montiel ^[2] ; C. Bettencourt ^[2] ; C. Silva ^[2] ; A. Abade ^[3] ; M.P. Aluja ^[1]
1. [1] Universitat Autònoma de Barcelona
  
  Universitat Autònoma de Barcelona
  
  Barcelona, España
2. [2] Universidade dos Açores
  
  Universidade dos Açores
  
  Portugal
3. [3] Universidade de Coimbra
  
  Universidade de Coimbra
  
  Coimbra (Sé Nova), Portugal
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Localización: Actas XIII Congreso SEAB. Biología de Poblaciones Humanas: Diversidad, tiempo, espacio / José Enrique Egocheaga Rodríguez (ed. lit.), M. J. Sierra (comp.), 2004, ISBN 84-609-1519-0, págs. 625-632
Idioma: español
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Resumen
- It has been assumed that human mitochondrial DNA (mtDNA) is maternally inherited, that it is not subjected to recombination events, and that the majority of individuals are homoplasmic. More recently, however evidences of mtDNA recombinations and high levels of heteroplasmy have been reported. Another feature of mtDNA is its high mutation rate. Nevertheless, there seems to be no consensus concerning the actual rate of mutation, since the estimation of control region mutation rate on families reveales a ~10-fold high value than that obtained by phylogenetic studies. In this work we present preliminary results of the estimation of mtDNA mutation rate using families of Azorean ancestry. This study is complemented with the investigation of heteroplasmy and possible recombination and/or paternal transmission of mtDNA. The HVRI was sequenced to 12 descending genealogies and representing 101 mtDNA transmissions. Four (~8%) heteroplasmic individuals were found. In one of the cases heteroplasmy was also present in the mother. In all the cases the possibility that the heteroplasmy could be due to the contribution of paternal mtDNA was excluded. The mutation rate was estimated to be 0.6262 mutations/pb/million years, being this value similar to what has been observed in other genealogy-based studies.