Original Paper
Campora: A Young Genetic Isolate in South Italy
Vincenza Colonnaa, Teresa Nutilea, Maria Astorea, Ombretta Guardiolaa, Giuliano Antoniolb, c, Marina Ciulloa, M.Graziella Persicoa
aInstitute of Genetics and Biophysics 'A. Buzzati-Traverso', CNR Naples, Naples, and bUniversità degli Studi del Sannio, Benevento, Italy; cDépartement de Génie Informatique École Polytechnique de Montréal, Montréal, Qué, Canada
Address of Corresponding Author
Hum Hered 2007;64:123-135 (DOI: 10.1159/000101964)
Key Words
- Genetic isolates
- Genealogy
- Haplotype analysis
- Bottleneck
Abstract
Genetic isolates have been successfully used in the study of complex traits, mainly because due to their features, they allow a reduction in the complexity of the genetic models underlying the trait. The aim of the present study is to describe the population of Campora, a village in the South of Italy, highlighting its properties of a genetic isolate. Both historical evidence and multi-locus genetic data (genomic and mitochondrial DNA polymorphisms) have been taken into account in the analyses. The extension of linkage disequilibrium (LD) regions has been evaluated on autosomes and on a region of the X chromosome. We defined a study sample population on the basis of the genealogy and exogamy data. We found in this population a few different mitochondrial and Y chromosome haplotypes and we ascertained that, similarly to other isolated populations, in Campora LD extends over wider region compared to large and genetically heterogeneous populations. These findings indicate a conspicuous genetic homogeneity in the genome. Finally, we found evidence for a recent population bottleneck that we propose to interpret as a demographic crisis determined by the plague of the 17th century. Overall our findings demonstrate that Campora displays the genetic characteristics of a young isolate. Copyright © 2007 S. Karger AG, Basel
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Author Contacts Vincenza Colonna Institute of Genetics and Biophysics 'A. Buzzati-Traverso', CNR Via Pietro Castellino, 111 IT-80131 Naples (Italy) Tel. +39 081 613 2294, Fax +39 081 613 2595, E-Mail colonna@igb.cnr.it
Article Information
M. Ciullo and M.G. Persico contributed equally to this work.
Received: September 18, 2006
Accepted: February 14, 2007
Published online: May 2, 2007
Number of Print Pages : 13
Number of Figures : 4, Number of Tables : 7, Number of References : 51
Publication Details
Human Heredity (International Journal of Human and Medical Genetics)
Vol. 64, No. 2, Year 2007 (Cover Date: May 2007)
Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001-5652 (print), 1423-0062 (Online) For additional information: http://www.karger.com/HHE
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