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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 LU and Secchi, Giannina, et al. (2011) In Genetics and Molecular Biology 34(2). p.187-194
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... (More)
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. (Less)
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publication status
published
subject
keywords
breeding units strategy, mtDNA haplogroup distribution, association, studies
in
Genetics and Molecular Biology
volume
34
issue
2
pages
187 - 194
publisher
Sociedade Brasileira de Genética
external identifiers
  • wos:000290865300003
  • scopus:79957916034
ISSN
1678-4685
DOI
10.1590/S1415-47572011000200003
language
English
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yes
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22df6097-8c5a-472d-9cf0-900a17897906 (old id 1986356)
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2011-06-29 12:04:19
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2017-01-01 04:00:03
@article{22df6097-8c5a-472d-9cf0-900a17897906,
  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.},
  author       = {Sanna, Daria and Pala, Maria and Cossu, Piero and Dedola, Gian Luca and Melis, Sonia and Fresu, Giovanni and Morelli, Laura and Obinu, Domenica 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},
  issn         = {1678-4685},
  keyword      = {breeding units strategy,mtDNA haplogroup distribution,association,studies},
  language     = {eng},
  number       = {2},
  pages        = {187--194},
  publisher    = {Sociedade Brasileira de Genética},
  series       = {Genetics and Molecular Biology},
  title        = {Mendelian breeding units versus standard sampling strategies: Mitochondrial DNA variation in southwest Sardinia},
  url          = {http://dx.doi.org/10.1590/S1415-47572011000200003},
  volume       = {34},
  year         = {2011},
}