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

Sanna, Daria and Pala, Maria and Cossu, Piero and Dedola, Gian Luca and Melis, Sonia and Fresu, Giovanni and Morelli, Laura Cornelia Clotilde and Obinu, Domenica Anna and Tonolo, Giancarlo and Secchi, Giannina and Triunfo, Riccardo and Lorenz, Joseph G. and Scheinfeldt, Laura and Torroni, Antonio and Robledo, Renato and Francalacci, Paolo (2011) Mendelian breeding units versus standard sampling strategies: mitochondrial DNA variation in southwest Sardinia. Genetics and Molecular Biology, Vol. 34 (2), p. 187-194. eISSN 1678-4685. Article.

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DOI: 10.1590/S1415-47572011000200003

Abstract

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
ID Code:6088
Status:Published
Refereed:Yes
Uncontrolled Keywords:Breeding units strategy, mtDNA haplogroup distribution, association studies, Sardinia
Subjects:Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Zoologia e genetica evoluzionistica
Publisher:Sociedade Brasileira de Genética
eISSN:1678-4685
Deposited On:27 May 2011 10:27

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