Blood groups in the Chueta community (Majorcan Jews)

A sample of 443 Chuetas (descendents of Majorcan Jews) was typed for the ABO, Rh, Lewis, Duffy, MNSs, Kell and P blood groups. Significant deviations from the Hardy-Weinberg equilibrium were observed in the MNSs and Duffy systems with a deficiency of heterozygotes. The gene frequencies were compared with those of the Balearic non-Jewish populations and significant differences were found. Genetic distances and cluster analysis demonstrated that the Chuetas resemble more their neighboring non-Jewish populations than other Jewish populations. Discriminant analyses showed that the Chuetas and other Jews considered in this study do not resemble each other but their host peoples with respect to these markers.     

On the incidence of blood group O and Gm(−1) phenotypes in patients with malignant melanoma

Summary Fifteen polymorphic systems of the blood (ABO, MNSs, Rhesus, P, Kell, Duffy, Kidd, Hp, Gc, Gm, Inv, aP, PGM₁, EsD, and 6-PGD) were examined in 191 unrelated male and female patients suffering from malignant melanoma. These polymorphic systems were compared with the corresponding phenotype and gene frequencies of controls from the same geographical area (Rhineland-Palatinate). The only associations discovered were the ABO and Gm polymorphisms: The incidence of O and Gm(-1) phenotypes in patients is obviously higher than in controls. These observations agree with the findings in other population samples from Germany and Bulgaria.     

The association of genetic markers and malaria infection in the Brazilian Western Amazonian region

Almost all individuals (182) belonging to an Amazonian riverine population (Portuchuelo, RO, Brazil) were investigated for ascertaining data on epidemiological aspects of malaria. Thirteen genetic blood polymorphisms were investigated (ABO, MNSs, Rh, Kell, and Duffy systems, haptoglobins, hemoglobins, and the enzymes glucose-6-phosphate dehydrogenase, glyoxalase, phosphoglucomutase, carbonic anhydrase, red cell acid phosphatase, and esterase D). The results indicated that the Duffy system is associated with susceptibility to malaria, as observed in other endemic areas. Moreover, suggestions also arose indicating that the EsD and Rh loci may be significantly associated with resistance to malaria. If statistical type II errors and sample stratification could be ruled out, hypotheses on the existence of a causal mechanism or an unknown closely linked locus involved in susceptibility to malaria infection may explain the present findings.     

Investigations on the variability of blood group polymorphisms among sixteen tribal populations from Orissa, Madhya Pradesh and Maharashtra, India.

Sixteen tribal populations from Orissa, Madhya Pradesh and Maharashtra have been typed for the polymorphic blood group systems A1A2B0, MNSs, Rhesus, Kell, Duffy and Diego. The heterogeneity in the distribution of haplotype and allele frequencies, respectively, is partly considerable. It is supposed that this is due to the operation of several microevolutionary factors, such as genetic drift, social and geographic isolation and gene flow. This is discussed in detail.     

Human biology in Mexico. II. A comparison of blood group, serum and red cell enzyme frequencies, and genetic distances of the Indian populations of Mexico

Three hundred and ninety-five individuals from two populations from the State of Tlaxcala, Mexico, were studied in relation to the ABO, Rh, MNS, P, Kell, Lewis, Diego, Kidd, Duffy, Haptoglobin, Transferrin, Group specific component, Albumin, Acid Phosphatase and Phosphoglucomutase systems. One of the populations (San Pablo del Monte) is Indian, while the other (City of Tlaxcala) is Mestizo. The alleles which show variation in the Mestizo population are intermediate between the Spanish and the Indian gene frequencies. Three different genetic distance measures suggest that the Mestizo population is a triracial hybrid, while the Indian population is closely related to its two most proximal geographic neighbors, Vera Cruz and Puebla.     

Associations between atopic diseases and the polymorphic systems ABO,kidd, inv and red cell acid phosphatase

Summary In 239 German patients with atopic conditions (atopic dermatitis, hay fever, allergic rhinitis, bronchial asthma, and acute urticaria) the phenotype and gene distribution of 15 genetic blood polymorphisms (ABO, MNSs, Rhesus, P, Kell, Duffy, Kidd, Hp, Gc, Gm, Inv, aP, PGM₁, EsD, and 6-PGD) were analyzed and compared with those in 151 selected controls (individuals clinically free of allergic conditions and without allergy in the family history). The incidence of blood group antigens A and B was somewhat higher in patients than in controls. These observations are in accordance with the results of previous studies in other populations. In addition, our observation favor the hypothesis that there are also associations between the phenotypes Jk (a-b+), Inv(1) and red cell acid phosphatase aP a and aP AP on the one hand and atopic disposition on the other. The possible reasons for these associations are discussed.     

Distribution of blood groups, serum markers and red cell enzymes in two human populations from Northern Siberia

555 individuals were examined in relation to the ABO (with A1 and A2 subtypes), MNSs, P, Rh, Lutheran, Kell and Duffy systems. Less individuals were studied for the Kidd and Diego systems as well as for transferrins, haptoglobins and red cell enzymes, i.e. PGM1, 6-PGD, AK, and AcP. Besides, several Gm and Km (1) factors were also studied.     

Blood groups and HLA antigens in patients with abdominal aortic aneurysms

Frequencies of blood groups (ABO, Rh, MNSs, P, Kell, Lewis and Duffy) and HLA antigens were studied in a series of patients from northern Sweden with abdominal aortic aneurysms. The following significant differences from the controls were found: a decreased frequency of the Rh-negative blood group and increased frequencies of the Kell-positive and MN blood groups. Previously reported associations with the ABO and Rh systems were not confirmed.     

Ethnic communities in Israel: The genetic blood markers of the Babylonian Jews

One hundred eighty-eight Jewish individuals who either they or whose both parents were born in Iraq were typed for 7 blood groups (ABO, MNS, Rh, Kell, Duffy, P and Kidd), 12 red cell enzyme systems and 2 serum proteins. Iraqi Jews are characterized by a high frequency of A (in ABO), N (in MNS), low cde (Rh) and low Hp-1. Several rare electrophoretic variants were encountered: PGM₁ 6-1, PHI 3-1 and PHI 2-1, and an unidentified AK phenotype. No evidence of Negroid admixture was found in their gene pool. Comparisons with results previously obtained in Iraqi Jews show general similarities in frequencies while comparisons with neighboring non-Jewish populations suggest divergence in most systems investigated. The difficulties of assessing relationships on the basis of a few selected differences and the need for careful interpretations of similarities are emphasized.     

宁夏回族红细胞血型的研究

调查了219名宁夏回族的 ABO、MNSs、Rhesus、P、Lewis、Duffr、Kidd Diego 、Kell、Lutheran和Xg等11种系统的红细胞血型。结果表明,宁夏回族有较高的q(0.2530)、Fy~a(0.9270)、CDe(0.6225) 和E(0.2660) 等基因或染色体频率;d(0.0557)、s(0.0594)、P_1(0.1316)和 Le~a(0.3882)等基因频率较低;而未发现K和Lu~a基因;Di~a的频率为0.0349,也处于低水平;Ns(0.4984)连锁率高于 Ms(0.4422);Xg~a基因频率为0.4432。11个系统的红细胞血型的分布和遗传距离分析均反映了宁夏回族的遗传组成具有我国北方民族的特征,尤其接近于北方汉族和蒙古族,与新疆维吾尔族则存在较大的差异。     

Duffy-null promoter heterozygosity reduces DARC expression and abrogates adhesion of the P. vivax ligand required for blood-stage infection

The Duffy blood group antigen is an essential receptor for Plasmodium vivax entry into erythrocytes in a process mediated by the parasite ligand, the Duffy binding protein (DBP). Recently, individuals living in a malaria endemic region of Papua New Guinea were identified as heterozygous for a new allele conferring Duffy negativity, which results in 50% less Duffy antigen on their erythrocytes. We demonstrate that DBP adherence to erythrocytes is significantly reduced for erythrocytes from heterozygous individuals who carry one Duffy antigen negativity allele. These data provide evidence that emergence of this new allelic form of Duffy negativity is correlated with resistance against vivax malaria.     

Genetic polymorphisms in the Kuwaiti Arabs

Blood samples were collected from 162 Kuwaiti Arabs. These samples were typed for the ABO, MNSs, Rh, Kell and Duffy blood group systems, serum protein haptoglobins, the red cell isoenzymes acid phosphatase, phosphoglucomutase (locus 1), adenylate kinase, 6-phosphogluconate dehydrogenase, and the lactate and malate dehydrogenase variants. Comparisons were made with serological findings for other Arab populations in the Arabian peninsula.     

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

White blood cell count (WBC) is unique among identified inflammatory predictors of chronic disease in that it is routinely measured in asymptomatic patients in the course of routine patient care. We led a genome-wide association analysis to identify variants associated with WBC levels in 13,923 subjects in the electronic Medical Records and Genomics (eMERGE) Network. We identified two regions of interest that were each unique to subjects of genetically determined ancestry to the African continent (AA) or to the European continent (EA). WBC varies among different ancestry groups. Despite being ancestry specific, these regions were identifiable in the combined analysis. In AA subjects, the region surrounding the Duffy antigen/chemokine receptor gene (DARC) on 1q21 exhibited significant association (p value?=?6.71e-55). These results validate the previously reported association between WBC and of the regulatory variant rs2814778 in the promoter region, which causes the Duffy negative phenotype (Fy-/-). A second missense variant (rs12075) is responsible for the two principal antigens, Fya and Fyb of the Duffy blood group system. The two variants, consisting of four alleles, act in concert to produce five antigens and subsequent phenotypes. We were able to identify the marginal and novel interaction effects of these two variants on WBC. In the EA subjects, we identified significantly associated SNPs tagging three separate genes in the 17q21 region: (1) GSDMA, (2) MED24, and (3) PSMD3. Variants in this region have been reported to be associated with WBC, neutrophil count, and inflammatory diseases including asthma and Crohn's disease.     

Contribution to study of Asmat genetic variability

During an anthropological survey in the South-West of Irian Jaya (Indonesian New Guinea), 145 blood samples were collected from the coastal Asmat population. ABO, MNSs, Rh, Kell, Duffy and Kidd red cell antigen systems were investigated and the results are presented here. ABO, MNSs, Rh gene frequencies of the Asmat, together with those of 21 other New Guinea populations, were examined by principal component analysis. The topological representation of the distribution of the selected New Guinea populations confirms high variability in the interior of the island, and possible causes are discussed. A hypothesis is advanced, concordant with language evidence which would explain the resemblance among populations from opposite coasts of New Guinea and between some mountain and coastal groups. When the comparison includes 32 other world populations, the New Guinea groups constitute one assemblage distinct from the others.     

Contribution to the genetics of the serum β-lipoproteins in man

Summary A study on the possible existence of association and linkage of the Ag(x,y,a₁) system with ABO, MNSs, Pp, Rhesus, Kell, Duffy, Gm, Inv, Hp, and Gc groups is presented. No evidence of association and linkage was found.     

Genetic analysis of a population with abnormalities of gene frequencies]

Nineteen out of the 53 blood donors of french village with 241 inhabitants (Cezay Loire) are Rh negative (D--). This discrepancy in the distribution is analysed. 1.--The study of the genetic erythrocyte markers (ABO and Rh system for 158 inhabitants, Kell, Rautenberg, Duffy, Kidd, MNSs, P1 Lutheran, PGM1, PGM2, 6 PGD, AK, ADA, Acid phosphatase systems for 104 inhabitants) show significant abnormal gene frequencies (No. 10%) compared with a control population from Saint-Etienne, for A1, Ms, r, P1 alleles; conversely rare alleles do not seem to exist. HLA system was not tested. 2.--The genetic study led to: a) a demographic study which implied 7840 registrar's certificates and the building up of 1364 families to which the 5096 subjects belonged identified and having lived in Cezay since 1607 (this date corresponds to the earliest registrar's certificate). b) it also led to the analysis of the origin and evolution of the genetic inheritance throughout the 13 generations of known inhabitants. The calculation of the chances of each generation having passed on its genetic material to following generations shows that: Cezay has an integrated population; 30% of the genes are renewed for each generation the average value of each founder can vary according to the various generations but there seems to exist a "founder effect" of the Rh--(D--) having been and lived in the village before 1860. Although they represent 68% of the total population, the tested samples can be contested for certain systems, in its constitution (formation, choice) which prevents from ascertaining the foundation effect observed. The authors underligne the contribution of immunogenetics to the genetics of populations, and show the incidence of the choice of samples in the method used.     

Population genetics of blood group polymorphisms in a sample of newborns from Melbourne, Australia

Blood from 304 newborn infants of Melbourne, Australia, was examined for 9 polymorphic systems (red cell antigens ABO, MNSs, Rh, Kell, Duffy and Kidd, the red cell enzyme ESD and serum proteins GC and TF) in order to investigate the evolution of the Melbourne gene pool since 1975. Immigration patterns have changed considerably over the past 10 years, especially with an increase in refugees from South-East Asia. Three ethnic categories were identified on the basis of surnames; British Isles, Europe and Middle East, and South-East Asia, with the respective allele/haplotype frequencies of these groups being similar to those found in the source regions. Analysis by an R-matrix indicated that the Asians form a very distinctive subpopulation, but that their influence is minimal to date.     

Molecular evolution of a malaria resistance gene (DARC) in primates

Genes involved in host-pathogen interactions are often strongly affected by positive natural selection. The Duffy antigen, coded by the Duffy antigen receptor for chemokines (DARC) gene, serves as a receptor for Plasmodium vivax in humans and for Plasmodium knowlesi in some nonhuman primates. In the majority of sub-Saharan Africans, a nucleic acid variant in GATA-1 of the gene promoter is responsible for the nonexpression of the Duffy antigen on red blood cells and consequently resistance to invasion by P. vivax. The Duffy antigen also acts as a receptor for chemokines and is expressed in red blood cells and many other tissues of the body. Because of this dual role, we sequenced a ~3,000-bp region encompassing the entire DARC gene as well as part of its 5' and 3' flanking regions in a phylogenetic sample of primates and used statistical methods to evaluate the nature of selection pressures acting on the gene during its evolution. We analyzed both coding and regulatory regions of the DARC gene. The regulatory analysis showed accelerated rates of substitution at several sites near known motifs. Our tests of positive selection in the coding region using maximum likelihood by branch sites and maximum likelihood by codon sites did not yield statistically significant evidence for the action of positive selection. However, the maximum likelihood test in which the gene was subdivided into different structural regions showed that the known binding region for P. vivax/P. knowlesi is under very different selective pressures than the remainder of the gene. In fact, most of the gene appears to be under strong purifying selection, but this is not evident in the binding region. We suggest that the binding region is under the influence of two opposing selective pressures, positive selection possibly exerted by the parasite and purifying selection exerted by chemokines.     

Genetic markers in patients with intracranial aneurysms

HLA antigens, blood group systems (ABO, Rh, MNSs, P, Kell, Lewis and Duffy) and serum group systems (Hp, Tf, Gc, Pi, Bf, C3 and C4) were studied in a series of patients with intracranial aneurysms. A significantly increased frequency of HLA antigen A28, a significantly decreased frequency of HLA antigen B40, and a significantly decreased frequency of complement factor C4 B2 was found among the patients when compared with controls from the same geographic area.     

One-step immunopurification and lectinochemical characterization of the Duffy atypical chemokine receptor from human erythrocytes

Duffy antigen/receptor for chemokines (DARC) is a glycosylated seven-transmembrane protein acting as a blood group antigen, a chemokine binding protein and a receptor for Plasmodium vivax malaria parasite. It is present on erythrocytes and endothelial cells of postcapillary venules. The N-terminal extracellular domain of the Duffy glycoprotein carries Fy(a)/Fy(b) blood group antigens and Fy6 linear epitope recognized by monoclonal antibodies. Previously, we have shown that recombinant Duffy protein expressed in K562 cells has three N-linked oligosaccharide chains, which are mainly of complex-type. Here we report a one-step purification method of Duffy protein from human erythrocytes. DARC was extracted from erythrocyte membranes in the presence of 1% n-dodecyl-β-D-maltoside (DDM) and 0.05% cholesteryl hemisuccinate (CHS) and purified by affinity chromatography using immobilized anti-Fy6 2C3 mouse monoclonal antibody. Duffy glycoprotein was eluted from the column with synthetic DFEDVWN peptide containing epitope for 2C3 monoclonal antibody. In this single-step immunoaffinity purification method we obtained highly purified DARC, which migrates in SDS-polyacrylamide gel as a major diffuse band corresponding to a molecular mass of 40-47?kDa. In ELISA purified Duffy glycoprotein binds anti-Duffy antibodies recognizing epitopes located on distinct regions of the molecule. Results of circular dichroism measurement indicate that purified DARC has a high content of α-helical secondary structure typical for chemokine receptors. Analysis of DARC glycans performed by means of lectin blotting and glycosidase digestion suggests that native Duffy N-glycans are mostly triantennary complex-type, terminated with α2-3- and α2-6-linked sialic acid residues with bisecting GlcNAc and α1-6-linked fucose at the core.