title: Campora: a young genetic isolate in South Italy.
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.
authors.affiliation: Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR Naples, Naples, Italy. colonna@igb.cnr.it
authors.forename: Vincenza
authors.initials: V
authors.lastname: Colonna
authors.forename: Teresa
authors.initials: T
authors.lastname: Nutile
authors.forename: Maria
authors.initials: M
authors.lastname: Astore
authors.forename: Ombretta
authors.initials: O
authors.lastname: Guardiola
authors.forename: Giuliano
authors.initials: G
authors.lastname: Antoniol
authors.forename: Marina
authors.initials: M
authors.lastname: Ciullo
authors.forename: M Graziella
authors.initials: MG
authors.lastname: Persico
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D003710:Demography; D005260:Female; D018703:Founder Effect; D005819:Genetic Markers / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007178:Inbreeding; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers