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Biomedical subjects

M E Ghiani

Publications and source records attributed to M E Ghiani.

5 recordsLinked to original sources

Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability.

An informative set of biallelic polymorphisms was used to study the structure of Y-chromosome variability in a sample from the Mediterranean islands of Corsica and Sicily, and compared with data on Sardinia to gain insights into the ethnogenesis of these island populations. The results were interpreted in a broader Mediterranean context by including in the analysis neighboring populations previously studied with the same methodology. All samples studied were enclosed in the comparable spectrum of European Y-chromosome variability. Pronounced differences were observed between the islands as well as in the percentages of haplotypes previously shown to have distinctive patterns of continental phylogeography. Approximately 60% of the Sicilian haplotypes are also prevalent in Southern Italy and Greece. Conversely, the Corsican sample had elevated levels of alternative haplotypes common in Northern Italy. Sardinia showed a haplotype ratio similar to that observed in Corsica, but with a remarkable difference in the presence of a lineage defined by marker M26, which approaches 35% in Sardinia but seems absent in Corsica. Although geographically adjacent, the data suggest different colonization histories and a minimal amount of recent gene flow between them. Our results identify possible ancestral continental sources of the various island populations and underscore the influence of founder effect and genetic drift. The Y-chromosome data are consistent with comparable mtDNA data at the RFLP haplogroup level of resolution, as well as linguistic and historic knowledge.

Chromosomes, Human, Y↗

Y-chromosome-specific microsatellite variation in a population sample from Sardinia (Italy).

The genetic variability at seven Y-chromosomal microsatellite loci was studied among 113 Sardinian males from the regions of Campidano of Cagliari, Nuorese and Gallura. The allelic and haplotypes frequency distributions are compared between our sample and from the available literature data on Mediterranean and European populations. As a result, the Sardinian samples showed a very high allele frequency in the DYS19*17, a rarity in the rest of Europe, probably due to the founder effect. The analysis has shown an intra-population genetic heterogeneity and genetic differentiation from other Mediterranean and European population deal with. The results reported in this work showed that of the Euro-Mediterranean populations, the Corsican of the South seems to have the most genetic affinity with the Sardinians, thereby reaffirming the observations from previous works that had suggested a certain level of genetic similarity.

Chromosomes, Human, Y↗

New data on the genetic structure of the population of Sicily: analysis of the Alia population (Palermo, Italy).

The distribution of 13 genetic markers (AB0, Rh, ACP, ADA, AK, ESD, GLO, PGD, PGMl, SOD, GC, TF, and PI) were studied in a sample from the Alia population of Sicily, Italy. A total of 34 alleles were detected. In comparison with other Sicilian populations, Alia always appeared genetically distinctive, either in terms of overall genetic diversity or for the number of unique alleles present. The results are consistent with previous studies that show no genetic uniformity within the island. More specifically, the data support the genetic divergence of the eastern and western halves of the island and highlight genetic boundaries that run through Sicily and divide it into three distinct areas.

Alleles↗

Genetic structure and affinities of the Corsican population (France): classical genetic markers analysis.

The frequencies of 19 classical genetic markers for a total of 54 alleles were studied in a sample of 1,164 individuals born and residing in five different regions of Corsica. The results, which are also discussed in the context of the Mediterranean populations, show the existence within Corsica of a certain genetic differentiation between north and south which follows the linguistic subdivision differentiation. Compared to the other Mediterranean populations, Corsica also appears to be greatly differentiated from the populations of regions such as France and Tuscany, regions which have had great political and cultural influence. The Mediterranean population most comparable to Corsica is Sardinia. Despite their common origin, however, they do not prove to be absolutely identical. The genetic characteristics of Corsica and their relationship with the Mediterranean populations are interpreted in terms of demographic and matrimonial structure, isolation, and genetic drift.

Alleles↗

Mitochondrial DNA sequence analysis in Sicily.

This study reports data on the sequences of the first hypervariable segment of a sample of the Sicilian population from Alia (Palermo, Italy). The results show the presence of 32 different haplotypes in the 49 individuals examined. The average number of pairwise nucleotide differences was 4.04, i.e., 1.17% per nucleotide. The distribution of the nucleotide differences matches the theoretical distribution and indicates only one major episode of expansion that occurred between 20,732 and 59,691 years ago, between the Middle Paleolithic and Upper Paleolithic. Compared with the other populations, parameters of the Sicilian sample lie in an intermediate position between the eastern and western Mediterranean populations. This is due to numerous contacts that Sicily has had with the Mediterranean area since prehistoric times. At the same time, the singularity of some of the haplotypes present in the sample studied indicates the persistence of some characteristics caused by genetic drift and isolation that the population has endured in the course of its history.

Adult↗