Finno-Ugric Populations Research Articles

A Population Genetic Characterization of Estonians

This paper discusses the genetic characterization of Estonians on the basis of eight blood group systems, and the traits of PTC tasting and colour blindness in 40 Estonian population samples from various parts of the country. The allele frequencies for the total Estonian population and for the four most different regions are presented. The survey shows genetic heterogeneity within the Estonians; the greatest genetic differences were observed in West-East direction. The West-Islands, West, and North Estonia differ from the other regions (East, South-East, also South-West and Central Estonia--which form a compact cluster). The mean allele frequencies of the Estonians are comparable to those typical for populations from North and East Europe, but the allele frequencies of Estonians are characterized by tendencies in two opposite (western and eastern) directions, like in other Finno-Ugric populations and concerning other anthropological traits. Estonians reveal closest similarities to the nearest neighbouring populations, regardless of their language group. The genetic heterogeneity and antagonistic traits in Estonians seem to be traces of the original genetic structure of Finno-Ugric ancestor populations which were neither Mongoloid nor Caucasoid.

High frequency of the HIV-1 protective CCR5 delta32 deletion in native Estonians.

In previous studies, the highest frequencies (16%) of the CCR5 delta32 deletion have been found in populations of Finno-Ugric origin. We here report a high CCR5 delta32 frequency (15%) in another Finno-Ugric populations, the Estonians. The highest frequency (18%) was found on the geographically isolated Estonian island of Dagö. We examined 504 healthy unrelated individuals of Estonian nationality, whose grandparents were born in Estonia. The polymerase chain reaction assay was performed and the amplified products were digested with EcoRI.

HLA-DQA1 in autochthonous Basques: description of a genocline for the DQA1*0201 allele in Europe.

A total of 250 autochthonous Basque individuals were tested in the HLA-DQA1 system, and the allele frequency distribution found was significantly different from that of any other European population. The differences centre mainly on the alleles DQA1*0201 and DQA1*0501: for the former the Basques have the highest frequency described anywhere in the world (f = 0.210) and for the latter they have the lowest frequency in Europe (f = 0.204). For the allele DQA1*0201 a genocline is also described in Europe with the Basques and Finno-Ugric populations basically at the extremes. The genocline reflects the isolation of the Basque population since prehistoric times, and supports existing linguistic, archaeological and genetic data.

The incidence and characterization of phenylketonuric patients in Estonia.

Phenylketonuria (PKU; McKusick 261600) is one of the most common metabolic diseases among Caucasians, with median incidence of 1 in 10000 (Scriver et al 1995). This report presents the preliminary incidence and origin of PKU in Estonia, especially among Estonians, the genotype of our patients, and comparison of our results with those for other populations, particularly with Finno-Ugric populations. For a retrospective study all data on PKU patients born during 1980-1992 were collected. A total of 37 patients, 18 males and 19 females, in 35 families were determined. All these cases were late-diagnosed. All investigated cases can be classified as classical PKU, according to the initial phenylalanine (Phe) level before the treatment and Phe tolerance on diet. Data on the nationality and birthplaces of the parents and grandparents were collected by individual interview with each family. Molecular diagnosis of PKU was performed using exon-specific polymerase chain reaction (PCR) for amplifying exons with more numerous mutations, followed by sequencing or restriction analysis of the PCR product. In February 1993 a neonatal PKU screening programme was started in Estonia. A modified fluorimetric method for phenylalanine determination from filter-paper blood based on the enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by L-leucyl-L-atanine (McCaman and Robins 1962) is used. In total 33000 newborns have been tested for PKU and 6 cases of PKU have been diagnosed, giving a frequency of 1 in 5500. The analysis of the data for Estonia indicates a relatively high frequency of classical PKU, similar to that of middle-European countries and higher than in the other FinnoUgric populations, e.g. Finland 1 in 200000 and Hungary 1 in I 1000 (Scriver et al 1995). The present data show that in spite of linguistic and ethnic similarity with the Finns, Estonians are genetically rather different from them. Fifty-two per cent of our patients are at least third-generation Estonians. Other patients are mainly of Slavic origin. According to the data of the health authorities, 63.86% of our population are Estonians. Unfortunately, this figure was calculated according to parents' nationality (in only one generation). Of our so-called 'non-Estonian' group, 22% are families where only one grandparent is from another nationality and these patients were classified in the health register as Estonians. Therefore, it is difficult to compare these figures exactly. However, no considerable difference between the incidence of PKU among Estonians and other nationalities in Estonia has been found.

Transferrin C Subtypes and Ethnic Heterogeneity in Sweden

Transferrin (TF) C subtypes were studied in Swedish Lapps (Saami) and in Swedes from northern, central and southern Sweden, and the allele frequencies were compared with those in other European populations. The Swedish Lapps were found to have the lowest frequency of the TF*C3 allele (1-2%) so far observed in Europe. Most European populations have TF*C3 allele frequencies between 5 and 7%. Finns differ by having high TF*C3 frequencies (13-14%). The relatively high TF*C3 frequencies found in northeastern Sweden (13%) and in central Sweden (9%) are most likely due to eastern influence. Unlike other genetic markers of eastern influence (e.g. TF*DCHI), which are of Asiatic Mongoloid origin, TF*C3 appears to originate from Finno-Ugric populations.