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

Daria Sanna, Maria Pala, Piero Cossu, Gian Luca Dedola, Sonia Melis, Giovanni Fresu, Laura Morelli, Domenica Obinu, Giancarlo Tonolo, Giannina Secchi, Riccardo Triunfo, Joseph G. Lorenz, Laura Scheinfeldt, Antonio Torroni, Renato Robledo, Paolo Francalacci

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)187-194
Number of pages8
JournalGenetics and Molecular Biology
Issue number2
Publication statusPublished - 7 Jun 2011
Externally publishedYes


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