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

Sanna, Daria, Pala, Maria, Cossu, Piero, Dedola, Gian Luca, Melis, Sonia, Fresu, Giovanni, Morelli, Laura, Obinu, Domenica, Tonolo, Giancarlo, Secchi, Giannina, Triunfo, Riccardo, Lorenz, Joseph G., Scheinfeldt, Laura, Torroni, Antonio, Robledo, Renato and Francalacci, Paolo (2011) Mendelian breeding units versus standard sampling strategies: mitochondrial DNA variation in southwest Sardinia. Genetics and Molecular Biology, 34 (2). pp. 187-194. ISSN 1415-4757

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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.

Item Type: Article
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Depositing User: Cherry Edmunds
Date Deposited: 10 Oct 2012 12:47
Last Modified: 28 Aug 2021 20:27


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