Campora: a young genetic isolate in South Italy

Hum Hered. 2007;64(2):123-35. doi: 10.1159/000101964. Epub 2007 May 2.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics
  • Demography
  • Female
  • Founder Effect*
  • Genetic Markers / genetics
  • Genetics, Population*
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Inbreeding*
  • Italy
  • Linkage Disequilibrium*
  • Male
  • Microsatellite Repeats / genetics
  • Pedigree
  • Polymorphism, Genetic*
  • Sequence Analysis, DNA


  • DNA, Mitochondrial
  • Genetic Markers