Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwest Sardinia

Daria Sanna, Maria Pala, Piero Cossu, Gianluca Dedola, Sonia Melis, Giovanni Fresu, Laura Morelli, Domenica Obinu, Giancarlo Tonolo, Giovannina Secchi, Riccardo Triunfo, Joseph G Lorenz, Laura Scheinfeldt, Antonio Torroni, Renato Robledo, Paolo Francalacci
Genetics and Molecular Biology, Volume 34, Number 2, page 187-194 - 2011
We report a sampling strategy based on Mendelian Breeding Units (MBUs), representing an interbreeding group of individuals sharing a common gene pool. The identification of MBUs is crucial for case-control experimental design in association studies. The aim of this work was to evaluate the possible existence of bias in terms of genetic variability and haplogroup frequencies in the MBU sample, due to severe sample selection. In order to reach this goal, the MBU sampling strategy was compared to a standard selection of individuals according to their surname and place of birth. We analysed mitochondrial DNA variation (first hypervariable segment and coding region) in unrelated healthy subjects from two different areas of Sardinia: the area around the town of Cabras and the western Campidano area. No statistically significant differences were observed when the two sampling methods were compared, indicating that the stringent sample selection needed to establish a MBU does not alter original genetic variability and haplogroup distribution. Therefore, the MBU sampling strategy can be considered a useful tool in association studies of complex traits.

BibTex references

  author       = {Sanna, D. and Pala, M. and Cossu, P. and Dedola, G. and Melis, S. and Fresu, G. and Morelli, L. and Obinu, D. and Tonolo, G. and Secchi, G. and Triunfo, R. and Lorenz, J. and Scheinfeldt, L. and Torroni, A. and Robledo, R. and Francalacci, P.},
  title        = {Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwest Sardinia},
  journal      = {Genetics and Molecular Biology},
  number       = {2},
  volume       = {34},
  pages        = {187-194},
  year         = {2011},
  publisher    = {Sociedade Brasileira de Genética},
  doi          = {10.1590/S1415-47572011000200003},
  url          = {},

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» Renato Robledo
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