ABSTRACT
The 15 AmpF lSTR Identifiler loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) were analyzed in a sample of 136 unrelated Albanian adults from Kosovo. The agreement with HWE was confirmed for all loci with the exception of TPOX (based on the exact test only). The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 15 studied loci were 0.99999999999999997 and 0.9999995, respectively. According to the presented data, FGA proved to be the most informative marker. An interpopulation comparison between Kosovo Albanians and Croatians (as an example of a population from the Balkans) revealed significant differences in four out of nine loci.
Subject(s)
DNA Fingerprinting , Genetics, Population , Microsatellite Repeats/genetics , Adult , Albania/ethnology , Case-Control Studies , DNA Fingerprinting/methods , Databases, Nucleic Acid , Gene Frequency , Genetics, Population/methods , Humans , Yugoslavia/epidemiologyABSTRACT
Mitochondrial DNA polymorphism was analysed in a sample of 108 Croatians from the Adriatic Island isolate of Hvar. Besides typically European varieties of human maternal lineages, haplogroup F was found in a considerable frequency (8.3%). This haplogroup is most frequent in southeast Asia but has not been reported before in Europe. The genealogical analysis of haplogroup F cases from Hvar suggested founder effect. Subsequent field work was undertaken to sample and analyse 336 persons from three neighbouring islands (Brac, Korcula and Krk) and 379 more persons from all Croatian mainland counties and to determine if haplogroup F is present in the general population. Only one more case was found in one of the mainland cities, with no known ancestors from Hvar Island. The first published phylogenetic analysis of haplogroup F worldwide is presented, applying the median network method, suggesting several scenarios how this maternal lineage may have been added to the Croatian mtDNA pool.
Subject(s)
DNA, Mitochondrial/genetics , Genetics, Population , Haplotypes/genetics , DNA, Mitochondrial/chemistry , Europe/ethnology , Family Health , Female , Geography , Humans , Male , Pedigree , Phylogeny , Polymorphism, Restriction Fragment Length , Sequence Analysis, DNAABSTRACT
The aim of this study was to analyse short tandem repeat (STR) variation using the data on nine loci (D3S1358, vWA, FGA, THO1, TPOX, CSF1PO, D5S818, D13S317, D7S820) in the populations from eight villages on the island of Korcula, Croatia, in order to analyse its genetic and population structure. The analysis of STR data in this study indicated an appreciable degree of genetic homogeneity among the studied village populations on the island, even though a so-called 'east-west dichotomy' and differentiation between the inhabitants of the most recent settlement and the remaining ones was indicated with respect to the loci CSF1PO and TPOX, respectively. The validity of STR markers in assessing genetic structure of small populations and especially in determining the relationships among geographically closely related but reproductively isolated groups remains to be further evaluated, especially in terms of a larger number of studied loci in order to possibly find specific markers useful for resolving genetic patterns of variability at regional levels.
Subject(s)
Ethnicity/genetics , Gene Frequency/genetics , Genetic Markers/genetics , Genetic Variation/genetics , Minisatellite Repeats/genetics , Croatia , Emigration and Immigration/statistics & numerical data , Ethnicity/statistics & numerical data , Factor Analysis, Statistical , Genetic Carrier Screening , Genotype , Geography , Humans , Linear Models , Linguistics , Models, Genetic , Mutation/genetics , Pedigree , Polymerase Chain ReactionABSTRACT
The number of previous anthropological studies pointed to very complex ethnohistorical processes that shaped the current genetic structure of Croatian island isolates. The scope of this study was limited to the general insight into their founding populations and the overall level of genetic diversity based on the study mtDNA variation. A total of 444 randomly chosen adult individuals from 32 rural communities of the islands of Krk, Brac, Hvar and Korcula were sampled. MtDNA HVS-I region together with RFLP sites diagnostic for main Eurasian and African mtDNA haplogroups were analysed in order to determine the haplogroup structure. The most frequent haplogroups were "H" (27.8-60.2%), "U" (10.2-24.1%), "J" (6.1-9.0%) and "T" (5.1-13.9%), which is similar to the other European and Near Eastern populations. The genetic drift could have been important aspect in history, as there were examples of excess frequencies of certain haplogroups (11.3% of "I" and 7.5% of "W" in Krk, 10.5% of "HV" in Brac, 13.9% of "J" in Hvar and 60.2% of "H" in Korcula). As the settlements on the islands were formed trough several immigratory episodes of genetically distant populations, this analysis (performed at the level of entire islands) showed greater genetic diversity (0.940-0.972) than expected at the level of particular settlements.
Subject(s)
DNA, Mitochondrial/genetics , Gene Frequency , Adult , Africa , Asia , Croatia , Emigration and Immigration , Female , Geography , Haplotypes , Humans , Male , Rural PopulationABSTRACT
The aim of this study is to analyze short tandem repeat (STR) variation using data on 9 loci (D3S1358, VWA, FGA, THO1, TPOX, CSF1PO, D5S818, D13S317, D7S820) from the subpopulations of 6 villages on the island of Hvar, Croatia. The STR data help us to analyze the genetic structure of Hvar. The analysis of STR data in this study indicated genetic homogeneity among the village subpopulations on Hvar and the lack of the so-called east-west dichotomy, which had been indicated by some previous multidisciplinary anthropological studies. The observed value of GST (0.030) is most probably a consequence of high STR mutation rates, which produce a high level of within-group (village) diversity relative to total diversity of the population. The validity of STR markers in assessing genetic structure of small populations and especially in determining the relationships among closely related and reproductively isolated groups remains to be further evaluated.
Subject(s)
Genetic Variation , Genetics, Population , Minisatellite Repeats/genetics , Polymorphism, Genetic , Chi-Square Distribution , Croatia , Female , Gene Frequency , Humans , Male , Population Surveillance , Reproducibility of Results , Sensitivity and SpecificityABSTRACT
The DRB1, DRB3, DRB5, DQA1 and DQB1 allele polymorphisms were analysed in 3 western and 3 eastern villages of the island of Hvar using PCR-SSOP method and 12th International Workshop primers and probes. Three DQB1 alleles (*0304, *0305, *0607) detected in the population of the island of Hvar (HP) have not yet been observed in general Croatian population (GCP). Significant differences were observed between two regions of Hvar for: a) DRB1*0701 allele (p < 0.001), b) DQA1*0201 allele (p < 0.01), and c) DRB1*0101-DQA1*0101-DQB1*0501 haplotypic association (p < 0.05). Two unusual haplotypic associations, which have not yet been described in general Croatian population (GCP), DRB1*0101-DQA1*0102-DQB1*0501 and DRB1*1501-DQA1 *0102-DQB1*0604 were observed in the population from the island of Hvar (HP). Measures of genetic kinship and genetic distances revealed isolation and clusterization which coincides with the known ethnohistorical, as well as biological and biocultural data obtained from a series of previous investigations. The five studied village subpopulations formed two clusters (East-West) to which the far eastern village (with the highest rii of 0.0407) joined later, thus indicating possible impact of historical immigrations from the mainland.
