Genetic markers--blood groups ABO, RH, MN; serum proteins HP, PI, TF, C3; erythrocyte enzymes ACP1, ESD, AK1, PGM1, GLO1, PGD, PGP; and the other: PTC-tasting, ear wax types and color vision, were studied in two aboriginal Buryatian populations of Baikal Lake region: in Chitinskaya and Irkutskaya Provinces. Two samples were further divided into subgroups, according to their health status: "healthy", "indefinite" and "sick" by means of special regression procedure. The "healthy" subgroup of the Chitinskaya Province population is characterized by higher frequencies of PTC-tasters: 0.871 vs. 0.757 in the "sick" part (chi 2 = 5.36, p less than 0.05); higher frequency of the phenotype PI M1M1: 0.734 in "healthy" vs. 0.547 in "sick" (chi 2 = 8.89, p less than 0.01); also, lower frequency of the PI M1M2 phenotype: 0.148 and 0.299, respectively (chi 2 = 7.49, p less than 0.01); the frequencies of the phenotype TF C2C2 are: 0.015 and 0.076 (chi 2 = 5.48, p less than 0.05). In Irkutskaya Province population differences between "healthy" and "sick" subgroups were discovered for blood group AB: "healthy" 0.046 and "sick"--0.175 (chi 2 = 11.28, p less than 0.010); for GC (1F-2)--0.214 and 0.116 (chi 2 = 4.45, p less than 0.05). Some other differences between "healthy" and "sick" in both populations are not significant. Some trends concerning heterozygosity in loci--GC, PGM, TF were discovered. The results are considered from the viewpoint of higher fitness of some genetic traits in the populations studied.
Studies of 521 sera from the Icelandic cousin marriage project were made to assess the incidence of various anti-tissue antibodies and the levels of immunoglobulins, as these were considered to be useful markers of the humoral immune response. Comparisons were made between these parameters and the HLA-A and B antigens, the blood groups, the immunoglobulin allotypes (Gm, Km and Am), the properdin factor (Bf), and other markers. These investigations offered another approach to the study of the sites of action of immune response genes in man. Because the immune response may be expected to differ for each individual and depend at least in part, on the degree of exposure to different antigens, no absolute correlation was expected. There was, however, a marked association between certain IgG anti-tissue antibodies and HLA antigens. This was most marked for HLA-A10, B18 and b27, but not for HLA-A1 or B8. The comparison of immunoglobulin levels with HLA antigens, was less striking, although HLA-A2 appeared to be associated with low levels of IgE. There were also some associations between immunoglobulin levels and ABO blood groups.
Pre-eclampsia is an important cause of maternal morbidity and mortality. Its etiology is still unknown. Clinical symptoms correlate with activation of coagulation and inherited thrombophilia has been associated with pre-eclampsia. ABO blood group has been associated with thrombotic disorders and pre-eclampsia. We assessed ABO blood group, seven thrombophilia associated polymorphisms, and anti-beta2-glycoprotein I antibodies as risk factors for pre-eclampsia.
We performed a population-based nested case-control study of 100,000 consecutive pregnancies in Finland. Cases and controls were identified by combining national registers and medical records were reviewed. We studied 248 cases fulfilling strict criteria for pre-eclampsia and 679 controls. Severe pre-eclampsia, early pre-eclampsia, and pre-eclampsia with intra-uterine growth restriction (IUGR) were analyzed separately.
Blood group AB increased the risk for pre-eclampsia as a whole (OR 2.1, 95% CI 1.3-3.5), and in the three subgroups (OR 2.3, 3.8, 3.4; 95% CI 1.3-3.9, 2.0-7.1, 1.6-7.1). FV Leiden increased the risk as a whole (OR 1.7, 95% CI 0.8-3.9), and in the three subgroups, although not statistically significantly. Anti-beta2-glycoprotein I antibodies were not associated with pre-eclampsia. High body mass index, diabetes, first pregnancy, and twin pregnancy increased the risk from 1.5-fold to 8.2-fold.
Our results confirm and extend the prior observation of blood group AB being a risk factor for pre-eclampsia. ABO blood group is known from all pregnant women. The value of blood group as risk factor for pre-eclampsia should be further assessed in prospective studies. In this study, FV Leiden was not statistically significant risk factor.
The Nganasans are made up of two recently tribal populations. These, the Avam and Vadey, were established in the seventeenth century from small reindeer hunting bands, themselves apparently descended from the Yukaghir. Data on 13 blood systems have been described for the first time in the Vadey Nganasans, and the results compared with those previously reported for the two Avam subgroups. As a whole, the Nganasans are characterized by low frequency of B blood group, high frequencies of Ns, cDE, Fy(a), Hp(2), absence of A2, P(c), K, and apparently an absence of cde alleles or haplotypes. Measurement of intrapopulation heterogeneity reveals significant divergence among the two Avam subdivisions (chi 2/16=57.59; P less than 0.001), as well as between the total Avam and Vadey (chi 2/17=79.31; P less than 0.001). Founder principle, and local genetic drift, are believed to account for the greater difference between the Avam and Vadey subgroups than that observed between the two Avam populations. The Nganasans of the Taimir Peninsula appear to be the last group of reindeer hunters remaining in Northern Siberia. For ages they have lived in relative isolation, and therefore are the least touched genetically, either by surrounding herding groups originating in Southern Siberia, or by recent Caucasian admixture.
Clinico-genetic analysis was performed in 530 patients with chronic bronchitis (CB) and in 760 healthy persons. The frequency of aggravated heredity in the patients' parents was significantly higher than that in the healthy persons' parents (21.3 +/- 1.8 and 12.1 +/- 1.2%, respectively, P less than 0.05), this predominance being associated with such diseases as chronic bronchitis and bronchial asthma. A study of a type of familial aggravation has shown that the probability of CB development in descendants increases substantially if mother suffers from CB, CB morbidity among girls being significantly higher than that among boys. The results of a sib analysis also confirm an important role of the genetic mechanisms in CB development. Investigations using a twin method (14 pairs of monozygotic and 39 pairs of dizygotic twins) have demonstrated that genetic factors account for 41% in the formation of the leading CB symptoms while exogenous factors account for 59%. A study of the blood antigens ABO, Rh, MN, P, Hp has revealed different sensitivity of persons with different genetic blood markers to CB. Differences in the frequency of antigen combinations were also revealed in the patients and in the healthy persons. The results obtained indicate the appropriateness of further development of genetic investigations in pulmonology.
Distribution of phenotypes and gene frequencies for 5 polymorphic loci as well as frequencies of incidence of some anthroposcopic parameters in five subpopulations of the North Khanty population is presented. A comparative analysis was performed for the traits studied among the people of Finno-Ugric group and of North Asia. Wahlund's variance values point to significant subdivision of the population in question. Disruption of the Hardy-Weinberg equilibrium for haptoglobin locus was observed in two subpopulations. Estimates of inbreeding coefficients obtained by different ways (from gene frequencies, genealogy and isonymy) are compared.
Multidimensional statistical analysis for a set of morpho- and physiological traits (anthropological, hemodynamic and biochemical) was done by the principal components method with interpretation of the latter. Special features of phenotype relationships were established for some traits of pathogenetic values for human chronic pathology. Heterogeneity of distributions of genotype frequencies for polymorphic traits and chromosome Q segments in histogramms of principal components was shown. The distributions are considered to be of nonrandom patterns and reflect common population genetics processes affecting both classes of traits under study.
The Swedish State Institute for Blood Group Serology is a central government laboratory handling all blood typing in paternity cases in Sweden, each year testing 1,500-2,000 cases using about 13 polymorphisms. Of the accused men, 35%-40% are nonfathers, but in one-man cases (about 78% of all cases), approximately 75% are the true fathers. Exclusions appear to be distributed as expected from allele frequencies, and the paternity probability of nonexcluded men is assessed with a Bayesian approach. Some cases are retested in extended investigations which raise theoretical exclusion capability from about 87% to about 99%. Both the results of extended investigations and the theoretical consideration of the distribution of paternity probabilities support the use of such positive statistical evidence for the attribution of paternity.