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

Considering that genetic variation linked to the beta S mutation may influence the clinical manifestations of sickle cell disease, we have analyzed the beta globin cluster haplotypes in 47 patients with this condition (33 SS homozygotes, one S/beta thal (0), and 13 SC) living in London (30 West Indian, 17 West African). Of the 80 chromosomes tested, 82.5% had the Benin haplotype and of the 13 C chromosomes tested, 85% had the Bantu-A4 haplotype. A minority of patients had Bantu or Senegal haplotypes, and in 5 patients we found new haplotypes called E, H and O which may have arisen through mutation or recombination. Because of the predominance of a single haplotype (Benin) nearly all our homozygous S patients were either homozygous or heterozygous for this haplotype. We concluded that the beta globin haplotype is unlikely to be an important determinant of the clinical severity in this patient population.

This paper reports an extremely rare variant phenotype of Superoxide Dismutase (SODA 2) in a female individual belonging to the Shia Muslim population of Vizianagaram, Andhra Pradesh, South India whose parents are not consanguineous. This is the third report in the world so far. The corresponding SODA phenotype of other family members of the proposita were also investigated. The results and their significance are discussed in the light of earlier works in India and world populations.

The genetic polymorphism of vitamin D binding protein (DBP) and of properdin Factor B (BF) was determined in unrelated Namibian San and Khoi, and in South African Blacks, Caucasoids and Cape Coloureds. Alleles have been confirmed by segregation patterns in family studies. The DBP phenotypes were identified by isoelectric focusing on ultrathin polyacrylamide gels and the BF phenotypes were identified by electrophoresis on 1% agarose gels; both methods were followed by immunofixation. The DBP and BF allele frequencies for all population groups were found to be in accordance with Hardy-Weinberg equilibrium. DBP*1S and BF*S allele frequencies in the San, Khoi and Blacks were similar; their frequency was far lower than in Caucasoids. The frequencies of the DBP*1F and BF*F were also similar in the San, Khoi and Blacks; however, the allele frequency was much higher in these groups than in Caucasoids. These differences were statistically significant (P < 0.001).

Using micro-methods, we have phenotyped 3590 and 688 Algerians for the KEL and XG systems respectively. The gene frequencies were estimated for each of the 26 "wilayas" (regions) of the country. The KEL*K allele shows a heterogeneous distribution throughout the regions (frequencies ranging from 0.0269 to 0.0678) with no evident gradient, although within the caucasoid range. The XG*a frequencies in the wilayas range from 0.3150 to 0.7778 following an increasing south-north cline, thus confirming the intermediate status of Algeria between Europe and Africa.

The distribution of ABO and Rhesus blood groups in the populations of Cyprus have been studied in 47,759 individuals (about 8% of the Greek-Cypriot population). The data were classified according to the administrative areas of Cyprus and into further 41 smaller units.

In this study, we report the results of a geographical variation analysis on the gene frequencies of ABO and RH systems in 67 provinces of Turkey. The gene frequencies of A, O and RH(-), were subjected to spatial autocorrelation analysis and significant spatial autocorrelation coefficients were observed for each gene in the first distance class. The average I-correlogram for the three genes displayed a clinal pattern. The results also suggested a marked decrease in genetic similarity in relation to geographic distance.

Polymorphism of Inter-alpha-Trypsin Inhibitor (ITI) was investigated in 685 unrelated Japanese individuals by isoelectric focusing followed by electroblotting and immunogold silver staining. The allele frequency estimates were ITI*1 = 0.455 +/- 0.013, ITI*2 = 0.516 +/- 0.013, ITI*3 = 0.028 +/- 0.0045 and ITI*4 = 0.001 +/- 0.001 and the phenotype frequencies fitted the Hardy-Weinberg equilibrium. The ITI system could be regarded as a potential genetic marker in paternity testing and anthropological studies.

We describe a new, silent polymorphism in exon 15 of the APC gene on chromosome 5q in the Portuguese population. The polymorphism is located at codon 1442 and results in a CCT-->CCA (Pro) base transversion, with no amino acid change. Population analysis in unrelated healthy controls indicated that the polymorphism was present in 2 out of 50 individuals giving an allele frequency of 0.02 +/- 0.01. The polymorphism is the most common encountered in the Portuguese population in the mutation cluster region of exon 15, and has not been previously described in other populations.

The compiled data on the distribution of polymorphic blood groups (ABO, Diego, Duffy, Kell-Cellano, Kidd, MN, MNSs, P, Penney, Rh(D), Rh-Hr), secretion ABH antigens in saliva, HLA system (HLA-A, HLA-B, HLA-C, HLA-DR), immunoglobulin (GM1) and other miscellaneous data (phenylthiocarbamide taste, tongue rolling) in the Caucasus are presented. Results of the interpopulation heterogeneity test show that, in spite of the limited territory of the Caucasus, a high level of genetic variability was observed. In terms of gene frequencies, these ethnic groups are approximately equidistant from European and West Asian Populations.

Estimates of the gene frequencies for the ABO system (i = 0.5593, IA = 0.2989, IB = 0.1418) based on a random sample of more than two hundred thousand voluntary donors from the 19 countries of Hungary are provided. Populations West of the Danube differ significantly from those East of the Danube for the frequencies of i and IB. These data are consistent with previous ones on the HP gene.