Y-chromosome DNA haplotypes in north African populations

The frequency distribution of Y-chromosome haplotypes at DNA polymorphism p49/TaqI was studied in a sample of 505 North Africans from Mauritania, Morocco, Algeria, Tunisia, Libya, and Egypt. A particularly high frequency (55.0%) of Y-haplotype 5 (A2, C0, D0, F1, I1) was observed in these populations, with a relative predominance in those of Berber origin. Examination of the relative frequencies of other haplotypes in these populations, mainly haplotype 4 (the "African" haplotype), haplotype 15 (the "European" haplotype), and haplotypes 7 and 8 (the "Near-East" haplotypes), permit useful comparisons with neighboring peoples living in sub-Saharan Africa, Europe, and the Near East.     

Bulgarian Jews in Israel: genetic blood markers. Red-cell antigens, serum proteins and red-cell isozymes

Two hundred and sixteen unrelated Bulgarian Jews were typed for the following genetic systems: ABO, MNS, Rh, Kell and Duffy of the blood groups; ADA, AK1, ACP1, ESD, GLO, PGD, PGM1 and PGM2 of the red-cell enzymes, and for the serum proteins HP, GC and PI. A comparison of observed gene frequencies with those of two other Sephardi Jewish groups, from Libya and Morocco, disclosed significant heterogeneity in several systems. This was mostly due to Moroccan Jews differing from Bulgarian or from both the Libyan and Bulgarian Jews. A comparison of gene frequencies in Bulgarian Jews with those in Oriental Jews from Iraq and in Ashkenazi Jews from Poland disclosed a similarity between the three groups in Rh, ADA, GLO, PGM1 and HP. The frequencies for the above systems in the three groups were closer to those of Middle Easterners than to those of Europeans. A different pattern was observed for GC and PI, in which Bulgarian resembled Polish Jews and differed significantly from Iraqi Jews. This probably reflects an outcome of convergent adaptive processes.     

Red cell enzyme polymorphisms in Punjabis in North India

Seven red cell isoenzyme systems were investigated on a sample of 140 Punjabis from Hoshiarpur and Chandigarh, shown to be representative by comparison of their blood group frequencies with other samples from the area. Phenotype and gene frequencies are given for adenosine deaminase, adenylate kinase, acid phosphatase, 6-phosphogluconate dehydrogenase, phosphoglucomutase locus 1 and 2, lactate dehydrogenase and phosphohexose isomerase. The high frequencies of the ADA² and AK² genes in Indian samples and the presence of the rare variant 3-1 of phosphohexose isomerase are confirmed.     

Genetic polymorphism (ABO, Rh, Kell) in Kabul (Afghanistan)

ABO, rhesus and Kell blood group data on 1327 donors in Kabul are analysed by ethnic affinity and compared with existing data on Afghanistan peoples. Blood group frequencies are very similar in Pushtu and Tadjik, despite their different historical, linguistic, and cultural backgrounds. Inclusion of the small sample of Hazara in the analysis shows overall heterogeneity in rhesus D, E, and e frequencies, suggesting the existence of a broader pattern of genetic variation among the peoples of Afghanistan.     

Brief communication: Molecular characterization of O alleles at the ABO locus in Chilean Aymara and Huilliche Indians

A molecular characterization of alleles O1, O1variant (O1v), and the mutation G542A of the ABO blood group was performed in two Amerindian populations of Chile, the Aymara (n = 84) and the Huilliche (n = 75). In addition, a sample of 82 individuals of Santiago belonging to the mixed Chilean population was typed for comparative purposes. The polymorphisms which allow for molecular differentiation of different alleles of the O blood group were studied in genomic DNA. The mutations G188, G261-, G542A, T646A, and C771T, described for alleles O1, O1v, and G542A, were determined using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) technique. All individuals studied were group O homozygotes for the deletion G261-, which defines the O1 alleles. Results obtained indicate that allele O1v exhibits frequencies of 0.65, 0.81, and 0.60 in Aymara, Huilliche, and Santiago populations, respectively. The frequencies of allele O1(G542A) were 0.119, 0.113, and 0.079 in the same populations. Frequencies for alleles O1 and O1v obtained in the Chilean populations studied concur with the results obtained by other authors, respecting the greater frequency of allele O1v as well as with its heterogeneous distribution in aboriginal South American populations. In Chilean populations, Allele G542A exhibits lower frequencies than those described for indigenous populations from Brazil and may be used as an Amerind admixture marker.     

A genetic study of the Konda Kapu tribe of coastal Andhra Pradesh, South India

Phenotype and gene frequencies of two blood group and four red cell enzyme systems were examined in a Konda Kapu tribal sample of Coastal Andhra Pradesh, South India. The gene frequencies for these systems in Konda Kapus indicate the middle range values for Andhra Pradesh tribal populations, excepting the ADA and Rh(D) systems, where extreme range values are found. Further, gene flow is indicated between the Konda Kapus under study and Plain Kapus, a neighbouring caste population by calculation of Fi estimates.     

A genetic survey in the Bhil tribe of Madhya Pradesh,Central India

Examination of blood groups, plasma proteins and red cell enzyme types (23 loci), in a sample of 145 Bhils, a tribal group of Madhya Pradesh, Central India, demonstrates their genetic uniqueness. They differ in a number of systems from the nearby nontribal groups both of Hindus and Muslims. The results suggest that the Bhil frequencies include vestiges of the ancestral genepool of a more widespread aboriginal population whose influence is detectable in the gene frequencies of some other populations in India.     

Phosphoglucomutase-1 subtypes in the Albanian ethnic minority of the province of Cosenza (Calabria-Southern Italy): Presence of a new variant

Allele frequencies of the phosphoglucomutase-1 (PGM1), in the Albanian ethnic minority of province of Cosenza (Calabria-Southern Italy) were compared with the corresponding data from neighbouring non-Albanian sample groups. The isoelectrofocusing evaluation in the two populations revealed the presence of a new variant PGM1^*W31 in Albanian sample group. Furthermore, a significant heterogeneity was observed between Albanian allele frequencies and those of the surrounding groups.     

Frequency of Lewis blood groups and ABH and Lewis substance secretion in Schleswig-Holstein]

According to the hypothesis of Ceppellini and Morgan the Lewis blood groups are formed by the secondary attachment of the Lewis substances to the red blood cells and this process is genetically controlled by the genes of the ABH und Lewis(a)-substance secretion (SE, se, L and 1). The correctness of this hypothesis is demonstrated by determination of the Lewis blood groups and the ABH and Lewis secretor status with different suitable antisera and by estimation of the gene frequencies Se, se, L and 1 in a sample of 382 blood donors from Schleswig-Holstein and by determination of the same groups in 73 pairs of parents with 156 children. There are no significant differences between observation and expectation in the sample as well as in the family investigation and there are no critical pairs of parents having children with "impossible" Lewis blood group. The results suggest to make more use of the Lewis blood groups.     

Distribution of the ABO system and Rh factor in Sardinia

The authors examine the genetic structure of the Sardinian population based on the gene frequencies of the ABO blood group system and the Rh factor. The sample, composed of 13,972 individuals, is subdivided on the basis of altitude zones (mountain, internal hills, coastal hills and plains) and by historical-geographic zones. Also examined are the frequencies of a group of communities of different altitude and historical-geographic zones. The results point to genetic heterogeneity within both altitude and historical-geographic zones as well as within the single communities. A distribution gradient is seen for the IA and I0 alleles of the ABO system, namely: mountains, internal hills, coastal hills, plains.     

Lewis phenotypes and secretor character in the "Castilla la Nueva"-region (Spain). ABH and Lewis antigen levels in salivary secretion

In 1980 blood and saliva samples were taken from Spanish students of the University of Madrid. Red cells were analysed for A1B2BO and Lewis blood groups. Saliva samples were tested to detect the specific group substances ABH, Lea and Leb. A slightly higher frequency of the "le" gene (0.419) was found in our sample as compared to other Spanish samples. The phenotype frequencies of ABH secretors (77.2%) and non-secretors (22.8%) are in the range of other European populations. The levels of A and B antigens of individuals belonging to these blood groups were similar, whereas the average titration of the H substance showed the relation O greater than A2 greater than A1 greater than A1B greater than B. Analysis of variance proved this heterogeneity to be statistically significant. The amount of Lea substance in non-secretors was higher than in secretors. This shows again that the ABH secretor status has some influence on the quantity of this antigen. The average titration of the Leb substance in secretors was higher than that of Lea in individuals belonging to O, A and AB blood groups, but not in those with blood group B.     

No increase in chromosome aberrations in workers from an oil catalytic cracking plant.

A study of structural chromosome aberration frequencies in blood lymphocytes was performed in a group of 20 oil catalytic cracking unit workers and in 26 subjects belonging to the office staff of an oil refining plant, as well as in 35 matched controls. Subjects in the latter group were of the same sex (males) and similar age as the exposed group, and had similar smoking habits. Benzo[a]pyrene levels in workplace air samples were also determined. The cytogenetic analysis failed to show any differences between the exposed and control groups. A slight increase in benzo[a]pyrene level above the Cuban national standard of 1 ng/m3 was found during the air sample analysis in the oil catalytic cracking unit.     

Distribution of AB0 and RH blood group alleles in different populations of southern Punjab, Pakistan.

The analysis of a sample of 1632 individuals from patients of the Nishtar Teaching Hospital, Multan, suggests that different ethnic groups (Araeen, Mughals, Syed, Jat, Rajputs, Baloch and Pathan) are not significantly different from another with regard to the distribution of RH blood group alleles (RH*d around 0.30). The distributions of the AB0 blood group alleles suggest that different ethnic groups are not significantly different from the average alele frequencies (AB0*A = 0.23, AB0*B = 0.33, AB0*0 = 0.47) except for the Pathan ethnic group (AB0*A = 0.35, AB0*B = 0.47, AB0*0 = 0.27). The populations of different geographic areas are not significantly different from the average allele frequencies, except for the southern district of Rahim Yar Khan (AB0*A = 0.12) and the northern district of Sahiwal (AB0*A = 0.19). The populations of Sahiwal (RH*d = 0.35) and Muzaffargarh (RH*d = 0.36) yield significantly different allele frequencies at the RH locus. The interpopulation differences can be explained by the geographic distance. There is a significant difference in the frequencies of the AB0 alleles between rural and urban populations, suggesting that rural populations maintain their isolation from urban populations. Rural and urban populations are not significantly different from one another concerning the allele frequencies at the RH locus.     

Cytogenetic effects in workers occupationally exposed to tobacco dust

Tobacco dust mainly contains nitrosamines, which are readily absorbed by the body tissues like skin, respiratory epithelium, and mucous membrane of mouth, nose and intestines. Exposure to tobacco dust is known to affect the respiratory tracts in humans. In the present study, cytogenetic effects of exposure to tobacco dust are evaluated in 154 male tobacco factory workers and 138 age and sex matched controls by analysing chromosomal aberrations in their peripheral blood lymphocytes. The workers were in the age group of 20-55 years and were employed in the tobacco processing factory for 1-32 years. Heparinised blood samples were collected from workers and control subjects and lymphocyte cultures were carried out by using standard technique. Slides were prepared and 150 metaphases were screened for each sample for various structural and numerical types of abnormalities. A statistically significant increase was observed in the frequencies of chromosomal aberrations in non-smoking and smoking exposed groups when compared to the respective controls. An increase in the frequencies of chromosomal aberrations was also observed with increase in years of service in the exposed subjects.     

Genetic blood markers in Arab Druze of Israel

A sample of 153 individuals from a Druze village, in northern Israel, was typed for the following genetic markers--ABO, MNSs, Rh, P, Kell, and Duffy in the blood groups AcP, AK, ADA, EsD, GL01, ICD, LDH, G6PD, PGM 1 & 2, PHI, PGD and peptidases A, B, C, and D in the red cell enzymes and for the serum proteins Hp and GC subtypes. Rare variants were observed in the following systems: PGD, a new slow variant, PGM, type 8-1; Pep A, types 2-1 and 3-1, Pep B, type 2-1; Pep D, types 3-1 and 3-3; and type GC, 2-V. Significant deviations from Hardy-Weinberg expectations were observed for MNSs and Duffy because of increased homozygosity, which was also observed in three other systems. Gene frequencies compared well with those of Arab Druze and Moslems in Lebanon and of Israeli Moslems in most of the systems, except for the lower frequencies of blood group B, the NS chromosome, the cde haplotype, and the AcPA allele in the present sample. A considerably lower frequency of the Fy allele was found in the Druze compared with Arab Moslems. It may be due to the Druze having been less exposed to inflow of African genes, to their being highlanders, and, therefore, less exposed to Plasmodium vivax malaria, or to both of the above.     

Coagulation factor XIII: A useful polymorphic genetic marker

Summary The plasmas of two groups of subjects were examined for blood coagulation Factor XIII-A (FXIII-A, F13A) by electrophoresis in agarose using a Tris-EDTA-borate buffer to separate the common variants, F13A^*1, F13A^*2, and F13A^*3. Dimeric subunits were visualized in UV light as monodansyl cadaverine bound to casein at the position of the transglutaminase activity representing F13A. One test group consisted of 307 members of three large Caucasian families. The other consisted of 148 consecutive patients whose plasmas had been sent to the clinical laboratory for determination of prothrombin time. Segregation analysis and father-to-son transmission confirmed that F13A is inherited as an autosomal co-dominant trait. The allelic frequencies in the random sample were F13A^*1=0.82 and F13A^*2=0.18. This sample included both blacks and whites, and the gene frequencies were not significantly different in the two races. The gene frequencies among the unrelated spouses of the three white families were A^*1=0.75, A^*2=0.24, A^*3=0.01. Genetic equilibrium was present in both groups.The degree of polymorphism, the availability of blood, the ease of assessment, the absence of selective pressure, and the uniformity of gene frequencies in two major American ethnic groups make F13A a very useful marker for linkage studies and paternity testing. F13A has been provisionally assigned to chromosome 6. Linkage analysis of our family data did not provide evidence of linkage to two chromosome 6 markers, properdin factor B (BF) and glyoxalase 1 (GLO). The highest lod score (Z) was between F13A and the Kidd (Jk) blood group (Z=0.68 at -0.24).     

贵州汉族八个红细胞血型系统的分布

本文调查了贵州汉族八个红细胞血型系统的分布。结果表明P_1基因频率(0.1520)和Di~a。基因频率(0.0182)较低。其它系统的基因频率为P=0.2171、q=0.1858、r=0.5969、m=0.5400、n=0.4600、S=0.0478、s=0.9522、Jk~a=0.4633、Jk~b=0.5367、Fy~a=0.9367、Fy~b=0.0633。MNSs血型系统单倍型频率为MS=0.0301、NS=0.0177、Ms=0.5099、Ns=0.4423。Rh血型系统单倍型频率为R~1=0.5766、R~2=0.2508、R~0=0.0511、R~z=0.0421、r~’=0.0794。未发现MMSS、MNSS及Fy(a-)表现型。     

Exemples de tératologie chez les Chitinozoaires du Pridoli de Libye et implications sur la signification biologique du groupe

Jaglin, J.-C. & Paris, F. 1992 04 IS: Exemples de tératologie chez les Chitinozoaires du Pridoli de Libye et implications sur la signification biologique du groupe. [Teratologic cases among Pridolian chitinozoans from Libya and implications on the biological interpretation of the group.] Lethaia , Vol. 25, pp. 151–164. Oslo. ISSN 0024–1164.
Fairly numerous chitinozoans displaying morphological anomalies are recorded in Late Silurian subsurface material from Western Libya. The individuals described and illustrated in our paper range exclusively in a short interval at the top of the investigated sequence. These abnormal vesicles are interpreted as teratologic cases related lo an event of unknown origin. From our conclusions, the hypothesis of vegetative reproduction stages stated by previous authors seems unlikely. Therefore we still interpret the chitinozoan vesicles as eggs (or to a lesser extent as spores) of marine organisms. * Libya, Chitinozoans, Silurian, teratology, chitinozoan affinities .     

Phenotype frequency of LKE in the Danish population

A panel of 897 randomly chosen Danish donors of blood groups O and A was tested for the LKE antigen using a human anti-LKE. In this sample, 78.7% were LKE positive, 20.6% were weakly positive, whereas 0.7% were LKE negative. These phenotype frequencies are similar to those obtained by the first discovered human alloserum and by the monoclonal anti-SSEA-4 in previous studies. The previously reported lower LKE antigen strength in group A versus group O donors, and the association of LKE to the P system was confirmed.     

Gene frequency estimates for samples of black and white twins from the Philadelphia metropolitan area

Summary Maximum likelihood estimates of gene frequencies and their standard errors are presented for 21 blood group and serum protein polymorphisms. The observed frequencies for certain high and low frequency antigens also are reported. The data come from a sample of 399 same-sex twin pairs and two sets of triplets from the Greater Philadelphia urban region encompassing roughly five counties in southeastern Pennsylvania and three counties of southern New Jersey. Analyses are carried out separately for the four subgroups created by subdividing the sample by race and co-twin. Total sample estimates are also calculated within the two socially defined racial groups. The gene frequency estimates generally appear to be consistent with previously reported data for U.S. urban populations. The frequency of the Fy allele in the Duffy system, however, seems to be the highest value thus far published for a white population. The white sample Fy allele very well may be a heterogeneous class in which only a very small fraction is comparable to the Fy allele common in the black sample.