Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA.

The mitochondrial DNAs (mtDNAs) of 91 Tharus from Nepal were screened for restriction fragment length polymorphisms (RFLPs) using six highly informative restriction endonucleases. One pattern (morph) was found for BamHI, two for HpaI and HincII, three for HaeII, four for AvaII, and six for MspI. Two of the AvaII and four of the MspI morphs were "new" (not previously described). Virtually all of the "old" morphs found in the Tharus were previously observed in Orientals. The Oriental HaeII morph (HaeII-5) previously observed at a frequency of 5% was present in 25% of the Tharus. Of the 13 Tharu mtDNA types (defined by the six restriction endonuclease morphs) observed, five had previously been described ("old" types), all in Orientals. Three of these were unique for Orientals. All of the remaining eight "new" Tharu mtDNAs were all closely related to Oriental mtDNAs. Two of the "old" Tharu mtDNA types included the HpaI/HincII morph 1, a morph possibly indicative of the earliest human mtDNA types. From these data we have concluded that the Tharu mtDNAs are closely related to those of other Oriental populations. Further, our data support the hypothesis that human mtDNAs radiated from Asia.     

Mitochondrial DNA polymorphisms in the Albanian population of Calabria (Southern Italy)

RFLPs of mtDNA for HpaI, BamHI, HaeII, MspI, AvaII and HincII were analyzed in 100 individuals from 15 Albanian villages of the Cosenza province (Calabria, Southern Italy). Thirteen mtDNA types were identified, one of which is new and is due to an AvaII morph (AvaII 27^Alb) never described before. Other two types (15-2 and 40-2) previously unfound in Italians were detected in one and two individuals respectively. The intra-group homogeneity (F=.49) resulted to be the highest found among the Italian groups examined so far. It is however very similar to that of a control sample of the Calabria population (F=.46). On the whole no important differences have emerged in the comparison between Albanians and not Albanians from Calabria. These results can indicate either that the markers we examined are not discriminative or that genetic admixture has occurred at least by immigration of Calabrian women into the Albanian group.     

Red cell glutamic-pyruvic transaminase polymorphism in a sample of the Italian population a new variant allele: GPT8.

247 individuals from Northern Italy have been tested for red cell glutamic-pyruvic transaminase (GPT) polymorphism. An abnormal phenotype has been detected. Family data support the hypothesis of the existence of a new variant allele, GPT8, at the GPT locus.     

The polymorphism of red cell esterase D in Italy

1,153 unrelated individuals from three different areas of Italy were tested for the red cell esterase D polymorphism. The gene frequencies found in the three groups do not differ significantly from each other. The EsD2 allele in the total sample has a frequency of 14.6% but it is difficult at the present stage to know if this figure is valid for the whole Italian population. If so, the Italian EsD2 allele frequency lies at the upper limit of the range of the European values. No variant phenotypes were observed.     

Mitochondrial DNA polymorphisms in a sample of Albanian population (Tirana)

RFLPs of mtDNA for HpaI, BamHI, HaeII, MspI, AvaII and HincII were analysed in a sample of 100 from collected in Tirana (Albania). Eighteen mtDNA types were identified, four of which are new: two because of new morphs for Hpa/HincII (HpaI-9^Tir/HincII-17^Tir) and AvaII (AvaII-35Tir), and two because of new associations between morphs which were already known. Albanian data were compared with corresponding ones from Calabrians (Southern Italians) and Arbreshes (people of Albanian ancestry living in Calabria). Even though the examined mtDNA markers do not reveal important differences among the three groups, the analysis of both morphs and types shows a trend which places Arbreshes closer to Calabrians than to Albanians.