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.     

Investigations on the variability of four genetic serum protein markers (HP; TF, GC and PI subtypes) in Italy.

14 population samples from various Italian regions with a total of 2.577 unrelated male and female individuals were typed for four polymorphic serum protein polymorphisms: HP, and TF, GC and PI subtypes. The regional distribution of the allele frequencies of these four polymorphisms shows a considerable heterogeneity, which is for the most part statistically significant, thus indicating an obvious genetic variability of the population of the Italian Peninsula.     

Study of transferrin (TF), group specific component (GC) and alpha-1-antitrypsin (PI) subtypes in the populations of Basque country (Spain)

Genetic polymorphisms of three serum proteins Transferrin (TF), Group Specific Component (GC), and Alpha-l-Antitrypsin were investigated by isoelectric focusing (IEF) in the Basque and non Basque populations from Vizcaya and Guipuzcoa, Spain. Two of the three genetic systems (TF and PI) showed conclusive genetic heterogeneity between the Basque populations of these two provinces. In addition to the past genetic drift, the present day genetic differentiation in the Basque country seems to be contributed by the unique structure of its populations.     

Alpha-1-antitrypsin (PI) subtypes in Russians and Poles.

alpha-1-antitrypsin (PI) subtypes were studied in Poles and Russians. The frequencies of the PI alleles were similar in the two populations, with the exception of the Z allele, whose frequency was significantly lower in Poles. The M3 allele frequency, which is highly heterogeneous in European populations, has medium frequencies in Poles and Russians.     

Distribution of transferrin subtypes in Tarragona (east Spain).

The distribution of transferrin (TF) subtypes was determined by isoelectric focusing of sera from 284 unrelated individuals from Tarragona (south of Catalonia). The allele frequencies observed, TF*C1 = 0.805, TF*C2 = 0.162, TF*C3 = 0.026 and TF*B = 0.007 were similar to those reported for other Spanish populations.     

Genetic serum protein markers (HP,TF, GC and PI) in eight Slovakian population samples

1194 individuals from eight different regions of Slovakia have been typed for haptoglobin (HP) types and for transferrin (TF), group specific component (GC) and alpha-1-antitrypsin (PI) subtypes. Whereas the HP allele frequencies do not show a remarkable regional variability within Slovakia, this could be demonstrated concerning the TF, GC and PI allele frequencies. The reason for these distribution heterogeneities seems to be due to the incomplete panmixia of the Slovakian population by which local variations in the distribution of genetic markers could be maintained.     

Genetic serum protein markers (HP,GC, TF,PI) in four Turkish population samples

Four population samples from different regions of Turkey (Thracia, Karadeniz Bölgesi, West Anatolia and East Anatolia) with a total of 338 individuals have been typed for haptoglobin (HP) and for group specific component (GC), transferrin (TF) and alpha₁-antitrypsin (PI) subtype polymorphisms. The allele frequencies show some regional differences, which, however, are statistically insignificant. In general the Turkish HP, GC, TF and PI allele frequencies do not differ obviously from those observed in other populations of Caucasoid origin.     

Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).

The inherited prion diseases are neurodegenerative disorders which are not only genetic but also transmissible. More than a dozen mutations in the prion protein gene that result in nonconservative amino acid substitutions segregate with the inherited prion diseases including familial Creutzfeldt-Jakob disease (CJD). In Israel, the incidence of CJD is about 1 case/10(4) Libyan Jews. A Lys200 substitution segregates with CJD and is reported here to be genetically linked to CJD with a lod score of > 4.8. Some healthy elderly Lys200 carriers > age 65 years were identified, suggesting the possibility of incomplete penetrance. In contrast, no linkage was found between the development of familial CJD and a polymorphism encoding either Met129 or Val129. All Libyan Jewish CJD patients with the Lys200 mutation encode a Met129 on the mutant allele. Homozygosity for Met129 did not correlate with age at disease onset or the duration of illness. The frequency of the Met129 allele was higher in the affected pedigrees than in a control population of Libyan Jews. The frequency of the Met129 and Val129 alleles in the control Libyan population was similar to that found in the general Caucasian population. The identification of three Libyan Jews homozygous for the Lys200 mutation suggests frequent intrafamilial marriages, a custom documented by genealogical investigations.     

The Russian gene pool. Genogeography of serum genetic markers (HP, GC, PI, TF)

The study continues the series of works on the Russian gene pool. Gene geographic analysis of four serum gene markers best studied in the Russian population (HP, GC, PI, and TF) has been performed. Gene-geographic electronic maps have been constructed for 14 alleles of these loci and their correlations with geographic latitude and longitude. For all maps, statistical characteristics are presented, including the variation range and mean gene frequencies, partial and multiple correlations with latitude and longitude, and parameters of heterozygosity and interpopulation diversity. The maps of five alleles (HP*1, GC*2, GC*1S, PI*M2, and TF*C2) are shown and analyzed in detail. The genetic relief and structural elements of the maps are compared with the ecumenical trends, main variation patterns of these genes in northern Eurasia, and genetic characteristics of the indigenous populations of the Urals and Europe.     

The Russian Gene Pool: Gene Geography of Serum Gene Markers (HP,GC,PI,and TF)

The study continues the series of works on the Russian gene pool. Gene geographic analysis of four serum gene markers best studied in the Russian population (HP, GC, PI, and TF) has been performed. Gene-geographic electronic maps have been constructed for 14 alleles of these loci and their correlations with geographic latitude and longitude. For all maps, statistical characteristics are presented, including the variation range and mean gene frequencies, partial and multiple correlations with latitude and longitude, and parameters of heterozygosity and interpopulation diversity. The maps of five alleles (HP*1, GC*2, GC*1S, PI*M2, and TF*C2) are shown and analyzed in detail. The genetic relief and structural elements of the maps are compared with the ecumenical trends, main variation patterns of these genes in northern Eurasia, and genetic characteristics of the indigenous populations of the Urals and Europe.     

Courtship and Female Competition in the Majorcan Midwife Toad,Alytes muletensis

The courtship and mating behaviour of A. muletensis are described based on observations of captive toads. Courtship is prolonged and complex, with both sexes participating actively. Either sex can escape from amplexus and may do so if the partner fails to respond appropriately to courtship manocuvres. Females control the pace and duration of courtship. Females unable to obtain a mate drop their eggs unfertilized. Both sexes produce courtship vocalizations and either sex may initiate courtship, although females were observed to do so only when they were in danger of dropping their eggs. Physical competition in the form of interference and grappling may occur between either males or females, but was observed more frequently between females. The active role played by females during courtship in this species is discussed with regard to sex-role reversal theory and opportunities for mate choice.     

Genetic serum protein markers (HP,TF, GC,PI) in three population samples from Thuringia (Germany); Jena,Erfurt and Suhl

Haptoglobin (HP), transferrin (TF), group specific component (GC) and protease inhibitor (PI) polymorphisms were studied in three population samples from Thuringia: Jena, n=204; Erfurt, n=213; Suhl, n=180. GC and in particular TF allele frequencies show some statistically significant distribution heterogeneity, whereas HP and PI allele frequencies do not show any remarkable distribution differences. The results are discussed and compared with those obtained previously on other population samples from the eastern parts of Germany.     

Distribution of the ABO blood groups and the HP,TF, GC,PI and C3 serum proteins in Yakuts

In Yakut populations examined, polymorphisms of immunological and serum protein markers, including AB0 and Rhesus blood groups, HP, TF, GC, PI and C3, were revealed. Gene frequencies for the systems studied fell into the following ranges: AB0 system: r, 0.514 to 0.663; p, 0.136 to 0.306; q, 0.110 to 0.337; haptoglobin HP*1: 0.214 to 0.431; transferrin TF*C: 0.700 to 1.0; group specific component GC*1: 0.821 to 0.978; PI*M1 proteinase inhibitor (or alpha 1-antitrypsin) PIM1: 0.860 to 0.946; and third component of the complement C3*F: 0.031 to 0.143.     

Activation loop sequences confer substrate specificity to phosphoinositide 3-kinase alpha (PI3Kalpha ). Functions of lipid kinase-deficient PI3Kalpha in signaling

Phosphoinositide 3-kinases (PI3Ks) are dual specificity lipid and protein kinases. While the lipid-dependent PI3K downstream signaling is well characterized, little is known about PI3K protein kinase signaling and structural determinants of lipid substrate specificity across the various PI3K classes. Here we show that sequences C-terminal to the PI3K ATP-binding site determine the lipid substrate specificity of the class IA PI3Kalpha (p85/p110alpha). Transfer of such activation loop sequences from class II PI3Ks, class III PI3Ks, and a related mammalian target of rapamycin (FRAP) into p110alpha turns the lipid substrate specificity of the resulting hybrid protein into that of the donor protein, while leaving the protein kinase activity unaffected. All resulting hybrids lacked the ability to produce phosphatidylinositol 3,4,5-trisphosphate in intact cells. Amino acid substitutions and structure modeling showed that two conserved positively charged (Lys and Arg) residues in the activation loop are crucial for the functionality of class I PI3Ks as phosphatidylinositol 4,5-bisphosphate kinases. By transient transfecion of 293 cells, we show that p110alpha hybrids, although unable to support lipid-dependent PI3K signaling, such as activation of protein kinase B/Akt and p70(S6k), retain the capability to associate with and phosphorylate insulin receptor substrate-1, with the same specificity and higher efficacy than wild type PI3Kalpha. Our data lay the basis for the understanding of the class I PI3K substrate selectivity and for the use of PI3Kalpha hybrids to dissect PI3Kalpha function as lipid and protein kinase.     

Distribution of the AB0 Blood Groups and the HP,TF, GC,PI and C3 Serum Proteins in Yakuts

In Yakut populations examined, polymorphisms of immunological and serum protein markers, including AB0 and Rhesus blood groups, HP, TF, GC, PI and C3, were revealed. Gene frequencies for the systems studied fell into the following ranges: AB0 system: r, 0.514 to 0.663; p, 0.136 to 0.306; q, 0.110 to 0.337; haptoglobin HP*1: 0.214 to 0.431; transferrin TF*C: 0.700 to 1.0; group specific component GC*1: 0.821 to 0.978; PI*M1 proteinase inhibitor (or ₁-antitrypsin) PI*M1: 0.860 to 0.946; and third component of the complement C3*F: 0.031 to 0.143.     

PGM1 and TF subtypes and C3 polymorphisms in Continental Italy and Sardinia. Data on the world distribution of these genetic markers

PGM1, TF and C3 polymorphisms have been examined in two Italian samples, collected in continental Italy and in Sardinia (Cagliari). The PGM1 and TF subtypes were determined by isoelectric focusing while the C3 was studied by conventional methods. A significant difference in the gene frequencies of PGM1 and TF systems between our two samples has been observed. In addition, data on the world distribution of PGM1, TF and C3 polymorphisms have been presented.     

Participatory destigmatization strategies among Palestinian citizens,Ethiopian Jews and Mizrahi Jews in Israel

Abstract

This study examines how members of minority groups in Israel cope with stigmatization in everyday life. It focuses on working-class members of three minority groups: Palestinian Arabs or Palestinian citizens of Israel, Mizrahim (Jews of Middle Eastern and North African origin) and Ethiopian Jews. It reveals the use of racial, ethnic and national markers in daily processes of social inclusion and exclusion in one sociopolitical context. Palestinians, a group with a fixed external identity and a limited sphere of participation, were found to use the language of race and racism when describing stigmatizing encounters. Ethiopian Jews, the most phenotypically marked group, strictly avoided this language. For their part, Mizrahi Jews perceived the very discussion of stigmatization as stigmatizing, while often using ‘contingent detachment’ to distance themselves from negative group identities. Despite differences between the communities and the powerful role of the state in establishing symbolic and social boundaries, members of all three groups expressed their intention to achieve or retain avenues for participation in the larger society.     

Gc subtypes in some population groups from Israel. Comparison between world population groups and between Jews and non-Jews of the same areas

Results of Gc subtyping on 1,222 Israelis, Arabs and Jews, are summarized and their gene frequencies are analyzed in comparison with available data on Gc subtypes in non-Jews. A discriminant and a cluster analysis demonstrated that in their Gc subtype frequencies European and non-European Jews resemble the populations of the areas where they lived before immigrating to Israel. A possible explanation for this resemblance, which is seen in some and not seen in other genetic markers in Jews, is suggested here to be connected with the function of Gc as a vitamin D-binding protein.