Polymorphic biochemical systems in a population of newly arrived inhabitants of the northeastern USSR. IV. The characteristics of the genetic structure of persons with chronic pathological processes

Analysis of properties of the genetic structure in 2847 individuals with different chronic diseases (1261 men and 1586 women) for 14 polymorphic loci (AcP, PGM1, PGD, GPT, GLO-I, EsD, AK, Pp, E2, Hp, Gc, Tf, AB0 and Rh) is presented. Discrepancy between the observed and expected phenotype frequencies for PGM1, GLO-I, EsD and AB0 loci is observed in a sample of patients Deviation from the expected frequencies is unequal for the representatives of different sex. Male and female portions of the sample differ significantly from each other for AcP, GPT, GLO-I, AK, EsD, Tf and AB0 loci, i. e. for 7 from 14 systems analysed. Highly significant differences between healthy and sick individuals have been detected: in general samples for 8 loci (AcP, PGM1, GPT, GLO-I, AK, Pp, Hp, AB0); in men for 8 loci (AcP, GPT, AK, PGD, Pp, Tf, AB0); in women for 5 loci (PGD, Pp, Gc, Tf, AB0). The difference between sick and healthy individuals of different sex is not only of qualitative but also of quantitative expression. The difference between sick and healthy men is much stronger, as compared to that between women. A decline in the average heterozygosity is noted in sick individuals. From the results obtained it is possible to conclude that the group of different pathologic conditions for the complex of genetic parameters differs significantly from that of healthy individuals. This may be a reflection of adaptation and disadaptation processes under the extreme environmental conditions.     

Genetic polymorphism in the Karelian population]

Distribution of the genetic markers of blood groups (AB0, MNSs, Rhesus, P, Lewis, Duffy, Kell-Cellano, Kell-Kp, Kell-Sutter, Kidd, Lutheran); of serum proteins (Hp, Tf, Gc, C'3, Pi); red-cell enzymes (6-PGD, EsD, GLO, AcP, subtypes of PGM) was studied in Karels from the South part of Karelian ASSR. The results of comparison of Karels with the other finno-ugric peoples revealed peculiarities of gene pool in Karelian population.     

Genetics of Caucasian ethnic groups: distribution of some immunologic and biochemical markers in the Dagestan ASSR]

Distribution of the genetic markers of blood groups (AB0, Rhesus, MN, MNSs, P, Kell-Cellano); plasma proteins (Hp, C'3, Tf, Gc); red-cell enzymes (AcP, EstD, GLO-1) and also ABH-secretion was studied among 6 ethnic groups of Dagesthan. Distribution of gene frequencies in Dagesthan populations and other Caucasian ethnic groups was comparatively studied.     

Genetics of human populations of Caucasus: distribution of various immunological and biochemical markers in eastern Georgia

The distribution of genetic markers of blood groups (AB0, P, Rhesus, MNSs, Duffy, Lewis, Kell-Cellano), of the serum proteins (Hp, Gc, Tf, C'3), red-cell enzymes (AcP, EstD, GLO1) and also ABH-secretion among seven native populations of Eastern Georgia has been studied. The frequencies of genes and haplotypes were calculated for the polymorphic markers and the results obtained were used in analysis of interpopulation variation and genetic relationship of these populations to their geographical neighbours as well as to European and West Asian populations.     

Genetics of the native inhabitants of the Caucasus: distribution of various immunological and biochemical markers in North Osetiia and Checheno-Ingushety

The distribution of genetic markers of blood groups (AB0, Rhesus, MNSs, P, Duffy, Kell-Cellano), plasma proteins (Hp, Gc, C'3, Tf) and red-cell enzymes (Glo-1, AcP, EstD, 6-PGD, PGM1) as well as ABH-secretion has been studied among 6 native populations of North Osetia and Checheno-Ingushety. Distribution of gene frequencies in populations of North-Osetians, Chechenians, Ingushians and other Caucasian ethnic groups was comparatively studied.     

Distribution of ABO, MN, Rh blood groups and Hp, Tr, Gc and C3 serum factors in the Buryat population

Polymorphism of blood groups ABO, MN, Rh and serum proteins Hp, Tf, Gc, C3 was studied in Buryat populations of Zabaikalie, Pribaikalie, Olkhon island. No indication of significant heterogeneity was observed. Gene frequencies varied in different systems within the ranges: ABO (p-0.142-0.183; q-0.205-0.324; r-0.567-0.630); MN (m-0.531-0.624), Rh(d) (0-0.214), Hp (Hp 1-0.268-0.339), C3 (C3F-0.023-0.090), Tf (TfC-0.971-1.0), Gc (Gc1-0.728-0.840). Genetic distances between main Buryat groups were estimated.     

Population genetics of taiga hunters and reindeer breeders in central Siberia. The biochemical markers of genes Hp, Tf, Gc, A1b, GLO1, PGM1, AcP and EsD

Biochemical markers of gene systems Alb, Tf, Gc, Hp, GLO1, PGM1, EsD, AcP were analysed in the native population of Evenc national region. It is shown that native population of Central Siberia, in spite of its mongoloid racial type, posseses the complex of gene frequencies for protein loci studied which is not typical for mongoloids. The complex may be called "central-siberian" and its origin may be connected with the process of adaptation to environment of the Central Siberian geographical region. The system of gene markers analysed may be considered as a sensitive one in the studies of processes of gene adaptation to the local environmental factors and, in this connection, being perspective in these studies among native population of Siberia.     

Blood genetic markers in the Chinese of two eastern provinces

A total of 205 Han Chinese from two eastern provinces (155 from Fujien and 50 from Hopeh) were tested for the distribution of six blood groups--A1A2BO, MN, Rhesus (CcDEe), Lewisa, Kell (Kk) and Fya--four serum proteins--albumin and haptoglobin types; transferrin and group-specific component subtypes--haemoglobin, and twelve red cell enzyme systems--glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, lactate and malate dehydrogenases; acid phosphatase, esterate-D, glyoxalase I, adenylate kinase, glucose-phosphate isomerase, phosphoglucomutase (locus 2), and superoxide dismutase types; and phosphoglucomutase (locus 1) subtypes. The frequencies of blood groups were more or less within the reported frequencies in the Chinese. However the frequency of le was much lower in the present series. The Chinese are characterized by low p1, Ro, k, le, and a high Fya in general. P2 was lacking in the Chinese. There were some differences in the blood group frequencies in the two provinces. The frequencies of Hp alleles; Tf and Gc subtypes show characteristic mongoloid features with high Hp1, TfD, and GcIF. The frequency of TFC2 was higher in the Fujien province than that in Hopeh. At the hemoglobin locus only one Hb AD was detected, while the frequency of the beta-thalassemia trait was 0.03. No red cell G6PD deficiency or variant was detected. The distribution of red cell enzymes showed Mongoloid characteristics with low PGDC, AK2, ESD1, GLO1, and higher pa. PGM1 subtypes also had Mongoloid characteristics with lower PGM2+ and higher PGM2-. The phenotypic distribution of all the fifteen polymorphic loci was at Hardy-Weinberg equilibrium in both the Chinese populations.     

Genetic differentiation of the Mongolian population. Comparative analysis of the geographic distribution of biochemical markers of genes and restriction fragment length polymorphism of nuclear DNA in the Mongolian population]

The geographical distribution of the gene frequencies from loci: Hp, Tf, Gc, Pi, AcP1, GLO1, EsD, 6-PGD, PGM1 and RFLP's of the nuclear DNA of the loci HBG-2 (HindIII), HBB (AvaII), ApoB (XbaI), D7S8 (PstI), LDLR (HincII) and AT-3 was analysed in the Mongolian population. These data revealed the homogeneity of 18 local groups in Mongolia and extremely low genetic differences measured by GST. There was no differences in the average GST values between protein markers and nuclear DNA markers.     

Materials for studying the gene pools of Russia and neighboring countries: the Russian population of the Pskov region

The distributions of the genes and haplotypes for blood groups ABO, MN, Rhesus, P1, Lewis, and Kell-Cell-ano and biochemical markers of the genes of loci HP, GC, C'3, Tf, 6PGD, GLO1, ESD, ACP1, and PGM1 (including subtypes) were studied in 116 Russian subjects born in the Pskov oblast. Differences of this group from other Russian populations with respect to genetic structure were found.     

Biochemical gene markers in Komy populations

Gene pool of two Komy groups and Komy-Permiakh group has been characterized for biochemical gene markers Hp, Tf, Gc, C'3, PGM1, EsD, AcP, GLO1. Genetical characteristics of the groups investigated, other Finnish-Ugorh peoples and those neighbouring Komy peoples of no Finnish-Ugorh origin are compared. Genetical position of Komy peoples in the system of peoples of the Euro-Asia has been defined.     

Red cell antigen, serum protein and red cell enzyme polymorphisms in Eastern Highlanders of New Guinea

A series of 1,187 blood samples from eight population groups in the Eastern Highlands of Papua New Guinea were tested for genetic variation in blood groups, serum proteins and red cell enzyme systems. The populations belonged to the language groups Gahuku-Asarc-Bena Bena, Kamano, Yagaria, Keiagana, Fore, Agarabe, Auyana and Tairora. Polymorphic variation was found in the ABO, MNS, P1, Rh, Hp, Tf, SEP, 6-PGD, ADA, MDH, and PGM genetic systems. East to West variation was shown in the language groups; the O, S, R2, and R0 genes increase in frequency from East to West and the A, R1, and M genes decrease in the same direction. In the East higher frequencies were found for the Du antigen, for the PGM21 gene and for a PGM second locus variant. The MDH 3 variant was found in all the populations, its highest value being in the Tairora.     

Gene geography of human population: computer-generated regional genogeographic atlas

Gene geography is considered in this work as the instrument for analysis of population's gene pool. To be effective in this analysis, gene geography should move from mapping of gene frequencies for each gene (and phenes) to construction of genogeographical atlas, as a collection of maps generated by computer, following some strongly defined principles and methods, and joined together, according to general task and the programme of investigation. Brief version of regional genogeographical atlas of Mongolians and the other peoples of Central Asia is presented in the article. This atlas includes computer-generated maps of AB0, Hp, Gc, G'3, Tf, GLO, EstD and PGM1 gene frequencies as well as computer-generalized maps of Mongolian gene pool.     

Genetic structure of the populations of native inhabitants in the northeastern USSR. V. The Chukot Evens

The genetic structure of two Chukot Evens subpopulations (314 individuals) for electrophoretic protein systems and taste sensitivity to PTC was studied. 17 of the 39 loci were polymorphic (43.59%). The following systems were completely monomorphic: diaphorase NAD H (Dia); glucose-6-phosphate dehydrogenase (G-6-PD); glutamatoxalate transaminase (GOT); carbonic anhydrase (Ca-1); catalase (Ct), lactate dehydrogenase (loci LDH-A and LDH-B); leucine aminopeptidase (Lap); malate dehydrogenase (MDH); purine nucleoside phosphorylase (PNP); superoxide phosphorylase (PNP); superoxide dismutase (SOD); phosphoglucomutase-2 (PGM2); cholinesterase (locus E1); red cell esterase (4 loci); albumin (Alb); hemoglobin (Hb A and B); ceruloplasmin (Cp); and blood, gren, using the standard method. The following systems were polymorphic: red cell acid phosphatase (AcP); phosphoglucomutase-1 (PGM1); 6-phosphogluconate dehydrogenase (PGD); glutamatepyruvate transaminase (GPT); glyoxalase-1 (GLO-1); esterase (EsD); adenilatkinase (AK); alkaline phosphatase (Pp); cholinesterase (locus E2); haptoglobin (Hp); transferrin (Tf); group-specific component (Gc) and ABO, MN, Lewis, P blood groups and taste sensitivity to PTC. The following allele frequencies for polymorphic loci have been detected: AKI = 0.994; GLO = 1I = 0.082; GPT1 = 0.653; AcPA = 0.400; AcPB = 0.599; AcPC = 0.001; PGDA = 0.944; PGM1(1) = 0.906; EsD1 = 0.897; E2+ = 0.048; HpI = 0.394; GcI = 0,919; Tfc = 0.987; r(O) = 0.669; p(A) = 0.184; q(B) = 0.146; M = 0.711; Le = 0.411; P1+ = 0.521; t = 0.295. The genetic structure of Chukot Evens population is significantly nearer to that of the other ethnic groups of the North-East, in comparison with the genetic structure of Evenks of the Middle Siberia.     

No predictive value of GC phenotypes for HIV infection and progression to AIDS

Summary Linkage data on human factor H (HF) and 22 other human genetic markers are presented. Close linkage at 0<0.10 can be ruled out for a series of marker systems (Rh, PGM1, ACP1, Jk, Tf, Gc, MNSs, ME2, HLA, GLO1, ORM, Gt, PI, Hp, GPT). Strong evidence for linkage was obtained for peptidase A (PEPA) with lods >3.0 at =0.10 in males and at =0.20 for the sexes combined. From this result the HF locus can be provisionally assigned tochromosome 18.     

Genetic structure of the populations of native inhabitants of the northeastern USSR. IV. The Koryaks of Kamchatka

Genetic structure of four Kamchatka subpopulations (675 individuals) was estimated for 25 erytrocyte and serum systems, some blood groups and for taste sensitivity to PTC. 23 of 38 loci examined are completely monomorphic. These are: AK, Ca-1, Cat, Dia, Est1-4, GOT, G-6-PD, LDH A and B, MDH, PGM2, SoD, Hb alpha and beta, ChE1, Lap, Alb, Cp, Tf, Rh. Following allele frequencies were found for polymorphic loci: AcPA = = 0.616; AcPB = 0.383; AcPC = 0.0015; EsD1 = 0.882; GLO - I1 = 0.156; GPT1 = 0.611; PGDA = = 0.959; PGM1(1) = 0.953; ChE2+ = 0.039; Gc1 = 0.888; Hp1 = 0.173; r(0) = 0.620; P(A) = 0.201; q(B) = 0.179; le = 0.192; M = 0.397; P1+ = 0.585; t = 0.371. According to monomorphic and polymorphic loci set, Kamchatka Koryaks are rather similar to other ethnic North-East Asiatic groups, being the most approximate to Reindeer Chuckchies and the most remote from Alaskan and Asiatic Eskimos. In other words, the extent of genetic differences between Kamchatka Koryaks and North-East populations corresponds to the geographic distribution and the degree of ecological differences in these populations. Analysis of interpopulation heterogeneity permitted to reveal the extent of contribution of individual loci to "differentiation" of North-East ethnic groups. The possible influence of ecological factors on interpopulation and intersubpopulation heterogeneity of the loci analysed is discussed.     

Genetic aspects of vitamin D-deficient rickets: genetic markers of blood]

Polymorphism of the AB0 blood groups, haptoglobin Hp, vitamin-D-binding protein (Gc), transferrin (Tf), alpha 1-antitrypsin (alpha 1-AT) and serum alkaline phosphatase (Pp) was studied in a group of children suffering from rickets (VDDR) and in a adequate control group of healthy individuals of the same sex-age composition. Considerable differences were revealed between the VDDR patients and healthy individuals in frequencies of the PIM1 and PIM2 factors on the alpha 1-AT system, r and p of the AB0 system as well as the Hp. Increase in a portion of one of the homozygotes for the Hp and for the alpha 1-AT system took place at the expense of other homozygote proportion (the latter being decreased). Heterozygotes frequencies remained intact in both compared groups. Atypical combination of phenotypes and gene frequencies was observed in a group of patients in the alpha 1-AT and AB0 systems as compared with usual distribution in European population. Higher frequencies of rare alleles of the loci under study were observed in the VDDR patients, which is partially reflected in increase in heterozygosity level in total within a cogort of patients analysed. Combination of the Hp 1-1 (Hp)--A(AB0)--M2M2 (alpha 1-AT) factors should be considered as unfavourable in rickets prognosis.     

Gene pool of Dagestan ethnic groups: polymorphism of classical gene markers in the Darghin ethnic group

The work is part of a study of the gene pool for Daghestan ethnic groups. In total, 38 alleles and eight genotypes were studied at 14 loci (AB0, Rhesus, P, Lewis, Kell, HP, GC, C'3, TF, 6-PGD, GLO1, ESD, ACP, and PGM1) of immunogenetic and biochemical polymorphic gene systems. A high frequency of allele d of the Rhesus system was observed in all populations examined (0.399-0.474). Among the rare haplotypes of the Rhesus system, we observed CDE in the Degva population, Cde in the Sergokala and Degva populations, and cdE in the Sergokala and Vanashimakhi populations. The typical Caucasian ACP1c allele of the ACP1 locus, which is rather uncommon, was observed at a relatively high frequency in three (Segokala, Vanashimakhi, and Gubden) of the four local populations under study. In the Lewis system, a high frequency of the Le(a+b+) phenotype, which is characteristic of early childhood, was detected in the adult populations of Sergokala and Degva. The rare PGM1v allele of the phosphoglucomutase 1 system (PGM 1) was additionally observed in the Sergokala population. Statistical analysis identified 19 cases where the observed phenotype frequencies significantly differed from the frequencies expected from the Hardy--Weinberg equilibrium.     

Probable assignment of the serum cholinesterase (E1) and transferrin (Tf) loci to chromosome 1 in man.

Suggestions of linkage in males between the E1 and Rh loci (Z = + 1.849; THETA = 0.20) and between the Tf and Rh loci (Z = + 0.595; THETA = 0.35) are presented. The assignment of the E1 and Tf loci to chromosome 1 and the order Tf:E1:PGD:Rh:PGM1 are cautiously proposed.     

Genetics of the Caucasian population: Distribution of certain immunologic and biochemical markers in the Azerbaijanian and Armenian populations in the Georgian SSR]

Distribution of the genetic markers of blood groups (AB0, Rhesus, MNSs, Lewis, P, Kell-Cellano); serum proteins (Hp, C'3, Tf, Gc); red-cell enzymes (AcP, EstD,Glo-1) and also ABH-secretion was studied among three Azerbaijanian and two Armenian populations of the Georgian SSR. The results were used in analysis of the interpopulation variations and genetic relationship of the populations to their geographical neighbours.