Gene geography : a computerized bulletin on human gene frequencies最新文献

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).

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. A1A2BO 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 A2 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 A1 and A2 properties (the p1/p2 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 p1/p2 ratio below 3 and, in Finnmark, it was slightly below 2.

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.

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).

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.

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.

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.

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.

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.

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%.