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

Genetics and Molecular Biology

Daria Sanna²  Maria Pala¹  Piero Cossu²  Gian Luca Dedola²  Sonia Melis¹  Giovanni Fresu²  Laura Morelli²  Domenica Obinu²  Giancarlo Tonolo¹  Giannina Secchi¹  Riccardo Triunfo¹  Joseph G. Lorenz¹  Laura Scheinfeldt¹  Antonio Torroni¹  Renato Robledo¹  Paolo Francalacci² 

[1] ,Università di Sassari Dipartimento di Zoologia e Genetica Evoluzionistica Sassari Italy

关键词: breeding units strategy;    mtDNA haplogroup distribution;    association studies;   

DOI  :  10.1590/S1415-47572011000200003

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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