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Hum Hered ; 64(2): 123-35, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17476112

RESUMO

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.


Assuntos
Efeito Fundador , Genética Populacional , Endogamia , Desequilíbrio de Ligação , Polimorfismo Genético , DNA Mitocondrial/genética , Demografia , Feminino , Marcadores Genéticos/genética , Genótipo , Haplótipos/genética , Humanos , Itália , Masculino , Repetições de Microssatélites/genética , Linhagem , Análise de Sequência de DNA
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