Giuseppa E. Mameli

Mitochondrial control–region sequence variation in the Corsican population, France

The mtDNA sequence variation of the hypervariable segment I of the control region was studied in 47 unrelated individuals of Corsican origin from Corte (Corsica, France). Thirty‐one different sequences were identified by 40 variable sites, of which five involve transversions. The nucleotide diversity among the sequences was estimated as 1.03%. The pairwise difference agreed with the model proposed by Rogers and Harpending ([1992] Mol Biol Evol 9:552–569) and appeared bell‐shaped, with only one peak at 3.71, indicating the occurrence of a single episode of demographic expansion roughly 14,443 to 41,584 years ago. From our results it seems that the ancestral Corsican population expanded more recently than all other studied European populations. Compared to other populations by genetic distances and a neighbor‐joining tree, Corsicans appear most closely linked to the Basques and Sardinians than to other populations. Although the results substantiate an east‐to‐west migration, some problems are evident: 1) the estimates of demographic expansion are not in agreement with paleontological data; 2) the expansion occurred later than the expansion of the Sardinian population; and 3) the genetic affinity between Corsicans, Basques, and Sardinians. Answers will need to come from archaeological, paleontological, genetic, geological, and climatological observations. Finally, the study of mtDNA confirms what had already been shown with classic genetic markers. Am. J. Hum. Biol. 12:339–351, 2000.

GENETIC STRUCTURE OF SOUTHWESTERN CORSICA (FRANCE)

The distribution of nine red cell enzymes (ACP, ADA, AK, DIA, ESD, GLO1, PGM1, PGD, and SOD) and seven plasma proteins (C3, GC, HP, ORM, PI, PLG, and TF) was analyzed in a sample of 274 unrelated individuals from the southwestern area of Corsica (France), specifically from Ajaccio and nearby villages. The aim of the research was to study the genetic structure of Corsica and to add further to our knowledge about microgeographic variability of polymorphisms in Corsica. The analysis, carried out by genetic distances and R‐matrix through 39 alleles of 13 genetic markers, reveals a certain degree of differentiation within Corsica. The results show a genetic heterogeneity between Corsica and other European and Mediterranean populations, although the genetic differences appear to be smaller between Corsicans and Sardinians than among Corsicans and other compiled populations. Am. J. Hum. Biol. 10:567–577, 1998.

Red cell and serum protein polymorphisms in Sardinia

Four Sardinian population samples, from the provinces of Cagliari, Oristano, Nuoro and Sassari, were studied with regard to the erythrocyte enzyme systems ACP, ESD, PGM1, ADA, AK, 6PGD and Dia, and to the serum protein systems GC and C3. The findings showed a rather high degree of genetic heterogeneity of the Sardinians compared to the other populations from the Mediterranean area (Continental Italy, Sicily, Spain, North Africa).

Genetic structure of western Sicily

The distribution of AB0, RH, KELL, ADA, GLO1, AK, 6PGD, ESD, ACP, G6PD, C3, GC and APOB markers were studied in a sample coming from the province of Trapani (western Sicily, Italy). The results were discussed in the contest of the Mediterranean populations. Our analysis confirms the existence of a certain genetic differentiation within Sicily and suggests a strong heterogeneity between our sample and the North African populations. Moreover our data point out the genetic affinity among Sicily, Southern Italy and Greece.

AcP and EsD Polymorphisms in South Sardinia

A sample of the South Sardinia population was studied with respect to acid phosphatase (AcP) and esterase D (EsD) enzymes. The gene frequencies were: AcPA = 0.326, AcPB = 0.607, AcPC = 0.067 and EsD1 = 0.883. The results were compared with those of other Italian populations.

Gc and C3 Polymorphisms in South Sardinia

The distribution of phenotypes and gene frequencies of the group-specific component (Gc) and C3 complement were studied in South Sardinia. The gene frequencies were: Gc1 = 0.7346; C3F = 0.1963.

A survey of genetic polymorphisms in Sardinia

A sample of unrelated individuals coming from Sardinia has been typed for AB0, Rhesus, Kell, 6-PGD, G-6-PD, PGM1, AK polymorphisms.The gene frequencies are compared with the published data from other Italian population samples.With regard to these polymorphisms a considerable heterogeneity appears among the Sardinians and the Italian of mainland populations.

6PGD and PGM1 Polymorphisms in South Sardinia

A sample of unrelated individuals, born and living in South Sardinia, was studied with respect to the enzymes 6PGD and PGM1. The gene frequencies were: PGDA 0.989 and PGM1 0.790. The results were compared with those of other Italian populations.

AK and ADA Polymorphisms in South Sardinia

A sample of the South Sardinia population was studied with respect to adenylate kinase (AK) and adenosine deaminase (ADA) enzymes. The gene frequencies were: AK1 0.975 and ADA1 = 0.933. The results were compared with those of other Italian populations.