We studied four variable number of tandem repeat (VNTR) loci (D4S139, D10S28, D17S74, and D17S79) in five ethnic populations from the Seattle metropolitan area. DNA samples purified from randomly chosen individuals were digested with Hae III or Hinf I and probed with pH30, for D4S139; TBQ7 for D10S28; pCMM86 for D17S74 and pAC256 for D17S79. The allele frequencies, expected Hardy-Weinberg values, observed heterozygosities and genetic distances among the populations were obtained for all these loci. D4S139 restriction fragment lengths (RFLs) varied in size from 1.4 to 22 kilobase pairs (kbp). The observed heterozygosities (H) varied from 84% in Native American populations to 94% among Blacks. D10S28 RFLs varied in size from 650 base pairs (bp) to 10.1 kbp. H varied from 90% in Native Americans to 96% in Caucasians and Hispanics. D17S74 RFLs varied in size from 782 bp to 9.3 kbp. H varied from 87% in Asians to 92% among Blacks. D17S79 RFLs varied in size from 400 bp to 3 kbp. H varied from 87% in Hispanics to 95% in the Black population. The frequencies of genotypes of the loci conformed to Hardy-Weinberg equilibrium with the exception of the D17S79 in Hispanics and Native Americans. The genetic distances between the populations were also determined.
Blood samples from 15,426 blood donors from 17 out of Norway's 19 counties were tested for the presence of Kell (k) antigen. The K+ frequency in the total series was 8.28%, ranging from 4.61% in East-Agder county to 10.36% in Sogn and Fjordane. A(1)A(2)BO grouping of the donors showed that the lowest frequencies of group O were found in southeastern Norway (the counties surrounding the Oslo Fjord), and the highest along the coast of western Norway and in Nordland county. The highest A(2) blood group frequencies were found in the three counties of northern Norway, with a maximum value in Finnmark county. The ratio between the genes determining the A(1) and A(2) properties (the p(1)/p(2) ratio) was highest in southern Norway where in most counties was above 3. All the counties along the coast from Sogn and Fjordane northwards to the northern end of the country gave p(1)/p(2) ratio below 3 and, in Finnmark, it was slightly below 2.
We analyzed the polymorphism for the presence/absence of the YAP element in two male Romanian samples. Frequencies of 3.7% and 10.5% were found for the presence of the element in Maramures (North Romania) and Vrancea (East Romania).
A well defined Italian sample from Trino Vercellese (Northern Italy) is analysed for 75 nuclear DNA RFLPs. It represents the only European sample [Matullo et al 1994] which is unmixed in a comparative study of eight populations from four continents [Bowcock et al 1991a; Lin et al 1994]. Genetic substructure of this sample has been investigated by allele sharing distances and no bias or higher homogeneity is shown. Genetic variability between populations was measured by the FST statistics (average FST was 0.138 +/- 0.086). Average heterozygosity for eight populations was 0.312 +/- 0.069. Genetic distances were evaluated between pairs of populations. Phylogenetic trees were reconstructed and principal component analysis performed. Particular attention has been given to the genetic relationship between our sample and the mixed-Caucasoid sample: 14 out of 75 markers show statistically significant frequency differences (P < 0.05), 5 of which are significant at a probability level < 1%: GH/Bg1II (Lower system), D7S1/HindIII, D17S71/MspI, EPB3/PstI, HLA-DQA. Hypotheses on admixed origin of Europeans has been discussed.
The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K (2.99%), R347P (1.71%), W1282X (0.85%), and 3849 + 10 kb (0.43%). These mutations represent 74.36% of all CF mutations, providing a good basis for direct DNA-based diagnosis of CF in Slovakia.
The 3' flanking region of the interleukin-6 gene is polymorphic due to the existence of a hyper-variable region consisting of a number of A + T rich variable repeated DNA sequences (VNTR). We used specific primers to amplify this particular VNTR system by PCR in 222 unrelated normal Spaniards from Madrid, Spain. A model of inheritance comprising of five different allele classes was proposed and frequencies evaluated as follows: B4, 0.635; B3.1, 0.029; B3, 0.270; B2, 0.038; B1, 0.027. Also, examples of inheritance of mendelian microheterogeneity are shown. Heterozigosity index was calculated (H = 0.5) and no departure from Hardy-Weinberg equilibrium was observed (chi 2 = 0.091, d. f. 1, p > 0.75).
Microsatellites can be highly unstable and show a high level of polymorphism between individuals. Here we present the analysis of the CAG trinucleotide repeat polymorphism at the SBMA locus in 57 phenotypically normal individuals rigorously assigned to the Spanish Basque population. Results are compared with 100 Spanish non-Basque individuals who were already analyzed by us (175 alleles). This is the first study undertaken in these populations for this marker. In addition, we compared our results with those published for other populations. Relative allele frequencies showed differences between the samples and no unimodal distribution. The expected heterozygosity in the Basque sample was slightly lower than in the non-Basque sample. Conformity with Hardy-Weinberg equilibrium was verified by three tests. When compared with published data, the predominant alleles appear to be the same in the various populations. There are more differences between Basques and other Caucasoid samples than between non-Basques and Caucasoid samples. Population relationships were also examined by dendrograms based on genetic distances. The results obtained showed some peculiarities in the Basque population. The high degree of similarity with other dendrograms based on different markers and the efficiency of this STR marker in differentiating closely related populations, support the potential usefulness of microsatellites as tools for human population studies.
The distribution of four serum complement component polymorphisms (BF, C2, C3 and C4) were examined in two geographically separated populations, one from Tasmania (Australia) and the other from northeast England. The differences in genotypic frequencies between them at all 4 loci are not statistically significant (p > 0.05). When C4 haplotypes were investigated, only one (C4A4-C4B2) exhibited significant linkage disequilibrium (p = 0.0006 after correction, p = 0.01), and this was only observed in Tasmanians. The English population exhibited a larger number of alleles across the four loci used in this study than the Tasmanian, and this may well reflect a bottle-neck effect and the greater relative isolation of the population of the island State of Australia. Overall, the findings confirm the close relationship between immigrants from the British Isles to Tasmania.
PI phenotypes were determined by isolelectric focusing in a Venezuelan mixed population (the center point of the geographical area investigated being Apartaderos, State of Mérida, Venezuela). Six alleles were found, four normal and two risk-predisposing with the following frequencies: PI*M1 (80.5%), PI*M2 (7.0%), PI*M3 (6.2%), an anodic allele here referred to as PI*"AN' (0.2%), PI*S (5.0%) and PI*Z (0.9%). The latter, unlike the others, was found only in 10% of the area considered, where it had a polymorphic frequency of 2.1%, reflecting a probable geographic isolation and/or a cultural influence in mating choice. In this population the alleles predisposing to risk are most probably of Caucasoid origin ("Spanish' genes). The PI*Z and PI*S frequencies may be attributed to random genetic drift characterized by an important founder phenomenon and to population admixture (Amerindian and Spanish), respectively. The PI*S allele may be considered a very good marker for the Caucasoid contribution to the overall mixed population of Venezuela.
We estimated the allele frequencies of three variants of serum butyrylcholinesterase, CHE1*U, CHE1*A and CHE1*F in an urban population of Santiago, Chile, resulting from a mixture of Amerindians with Europeans (mostly Spanish). The CHE1*A frequency was approximately that expected for this population but the incidence of CHE1*F was higher than previous studies would have predicted, probably because in this case more precise techniques were used for its detection. The finding of a CHE1 AK individual suggests that allele CHE1*K is also present at an appreciable frequency in this population.
The distribution of AB0 blood and Lewis blood group phenotypes in 2988 Greek individuals was determined with monoclonal reagents and the results analysed according to their birthplace or that of their parents when they were born in the same region. Overall, the AB0 blood groups distribution was similar to that reported for Greek soldiers in 1919. The only unusual variation was that 29% of the donors born in Thrace were group B. The proportion of Lewis (a-b-) individuals ranged from 1-3%. The frequency of Le (a+b-) donors (non-secretors) ranged from 16% in Thessaly to 27% in East Macedonia, Epirus and those born abroad; the Le (a-b+) frequency was 71-83%.
Seven already known CF mutations were searched in 170 unrelated cystic fibrosis patients from different regions of Ukraine. Their frequencies in this sample were: Delta F508 - 50%, 1677delTA - 0.3% (10th exon), R553X - 0.6%, G551D - 0.3% (11th exon), R334W - 0.6% (7th exon). 1154insTC (7th exon) and S549I (11th exon) were not found. Heterozygotes for Delta F508 were searched in 865 healthy volunteers from different Ukranian regions. Their frequencies ranged from 1:28 to 1:70. We report here unpublished population data from Ukraine in order to discuss the origin, evolution and dispersion of chromosomes bearing the Delta F508 mutation. Selection in terms of heterozygote advantage is also discussed.
Human samples from the seven Canary Islands were studied for the following polymorphic red cell blood group systems: ABO, RH, MNSs, FY and P. In contrast to the intra-insular homogeneity found, inter-insular heterogeneity was observed for ABO, RH and FY. The observed blood group allelic systems were within the range of European populations, with some minor African contribution.
The distribution of glutathione S-transferase T1 (GSTT1) phenotypes was studied in a total sample of 673 Estonians whose four grandparents were born in Estonia, by an ELISA test able to differentiate between GSTT1 positive and GSTT1 negative phenotypes. 18% of the total sample did not present GSTT1-1 protein in whole blood. GSTT1-1 concentration was assayed in 519 out of the 552 GSTT1 positive subjects (i.e. 82% of the total sample) 49% percent of this subsample made up by 519 subjects was found to have GSTT1-1 in intermediate concentration and 33% in high concentration. The gene frequency of the GSTT1 deleted allele was estimated to be 0.423 as the square root of the frequency of the GSTT1 negative subjects (square root of 0.18 = 0.423) and that of the GSTT1 positive allele as (1-0.423) = 0.577. Statistically significant regional differences were found within the population with the lowest frequency of GSTT1 negative in western Estonia (9.5%) and the highest in the southeastern part of the country (24.5%).
A random sample of 140 individuals from the population of Valparaíso, Chile, was studied for 2 polymorphic genetic markers. The gene frequency estimates were: ACP*A = 0.246 +/- 0.026 and PGM1*2 = 0.235 +/- 0.025. The comparison of ACP with data obtained from other populations indicates a similarity with Mongoloid groups whereas for PGM1, the comparison with the data obtained shows no significant difference from Caucasoid populations. These results indicate that the Valparaíso population is the result of genetic admixture of various populations.
HLA class I (HLA-A, HLA-B) and class II (HLA-DR, HLA-DQ) gene frequencies in 6 subareas of Pavia province are calculated in two samples of bone marrow donors. We estimated the degree of genetic differentiation between the 6 sub-areas through the standardized variance FST. On the basis of the island migration model the number of migrants is estimated from FST and compared with the observed migration index in the province according to the 1991 census.
Typing of 23 blood groups, serum protein and red cell enzyme polymorphism was performed on two samples from Baden-Württemberg, Germany. One random sample comes from the city of Ulm and its surroundings and the other from a small isolate located in Upper Swabia. While the Ulm sample displayed allele and haplotype frequencies similar to those of other German populations, the sample from the isolate turned out to be different.
This paper reports PCR-based genotype distribution and allele frequencies of the locus HumFES/FPS (human c-fes/fps proto oncogene). For this study 300 unrelated Caucasoids of German ancestry living in Düsseldorf were analyzed. Seven of the eight alleles previously described and fourteen of the corresponding thirty-six diploid genotypes were detected. The proportions of heterozygotes and homozygotes observed and expected and the parameters of forensic interest, e.g. the mean paternity exclusion chance, were calculated. No deviations from the Hardy-Weinberg equilibrium were observed. A preliminary German data base (3,238 individuals) was created by using the weighted arithmetical mean which included data from Düsseldorf.
