Some genetic erythrocyte polymorphisms in the Mbugu and other populations of the Central African Republic with an analysis of genetic distances

Phenotype and gene frequencies of four blood group polymorphisms (ABO, MNSs, Rhesus, and Duffy) as well as hemoglobin types of four populations of the Republic of Central Africa are reported. All these polymorphisms are in Hardy-Weinberg equilibrium. Regarding the four blood group polymorphisms mentioned above the genetic distances according to NEI have been computed for fifteen populations of the Central-Eastern and Central-Western areas of Africa, including the four own samples. The results of these analyses are discussed.     

mtDNA control-region sequence variation suggests multiple independent origins of an "Asian-specific" 9-bp deletion in sub-Saharan Africans.

The intergenic COII/tRNA(Lys) 9-bp deletion in human mtDNA, which is found at varying frequencies in Asia, Southeast Asia, Polynesia, and the New World, was also found in 81 of 919 sub-Saharan Africans. Using mtDNA control-region sequence data from a subset of 41 individuals with the deletion, we identified 22 unique mtDNA types associated with the deletion in Africa. A comparison of the unique mtDNA types from sub-Saharan Africans and Asians with the 9-bp deletion revealed that sub-Saharan Africans and Asians have sequence profiles that differ in the locations and frequencies of variant sites. Both phylogenetic and mismatch-distribution analysis suggest that 9-bp deletion arose independently in sub-Saharan Africa and Asia and that the deletion has arisen more than once in Africa. Within Africa, the deletion was not found among Khoisan peoples and was rare to absent in western and southwestern African populations, but it did occur in Pygmy and Negroid populations from central Africa and in Malawi and southern African Bantu-speakers. The distribution of the 9-bp deletion in Africa suggests that the deletion could have arisen in central Africa and was then introduced to southern Africa via the recent "Bantu expansion."     

Genetic variability among peoples of Aruba and Curaçao

Data were obtained from 252 elementary school pupils in four regions of Aruba and in the suburbs of Willemstad, Curaçao. Data included ABO and MN blood groups, ratings of skin color and hand prints. Pupils in the Noord region of Aruba differ significantly from those at other schools in both islands with respect to frequencies of MN blood group genes; mean ridge counts on fingers; and pattern frequencies in hypothenar and thenar/first interdigital palmar areas. Noord pupils have significantly darker skin color than those in other Aruban areas. No significant differences were encountered in ABO frequencies, which are more similar to those of Negroes than to American Indians and Caucasians. MN blood group frequencies and finger prints of pupils in the Noord region are similar to those of American Indians, whereas those in other regions are similar to those of Negroes and western Europeans.     

EBV and systemic lupus erythematosus: a new perspective

We have proposed that EBV uses mature B cell biology to access memory B cells as a site of persistent infection. A central feature of this model is that EBV adapts its gene expression profile to the state of the B cell it resides in and that the level of infection is stable over time. This led us to question whether changes in the behavior or regulation of mature B cells would alter the state of EBV persistence. To investigate this, we studied the impact of systemic lupus erythematosus (SLE), a disease characterized by immune dysfunction, on EBV infection. We show that patients with SLE have abnormally high frequencies of EBV-infected cells in their blood, and this is associated with the occurrence of SLE disease flares. Although patients with SLE have frequencies of infected cells comparable to those seen in immunosuppressed patients, in SLE the effect was independent of immunosuppressive therapy. Aberrant expression of viral lytic (BZLF1) and latency (latency membrane proteins 1 and 2a) genes was also detected in the blood of SLE patients. We conclude that the abnormal regulation of EBV infection in SLE patients reflects the sensitivity of the virus to perturbation of the immune system.     

Genetic differentiation of Yemeni people according to rhesus and Gm polymorphisms

For introducing Yemeni population in synthesis of genetic relationships of human populations, analysis of rhesus and Gm polymorphisms have been carried out for a population sample of 210 Yemenites. Rhesus haplotype frequencies were compared to those estimated in an original sample of 171 Tunisians and to available data for other populations. Gm haplotype frequencies were introduced in a wide synthesis of genetic relationships for 67 populations from Africa, Europe, the Near East and India. The genetic profile of Yemeni people would be close to that of a highly diversified ancestral population. The first inhabitants of North Africa, the Berbers and Yemenites have very likely a common origin and were not subject to important genetic drift after their geographic differentiation. While, the divergence between Yemenites and their neighbours of sub-Saharan Africa would have occurred with a founder effect and a long isolation. An important parallelism is observed for the Gm system between genetic and linguistic differentiations.     

Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity

Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotypes in 1,343 chromosomes from around the world. Although a classical out-of-Africa topology was observed in trees based on the variant frequencies, the tree of haplotype sequences reveals three lineages accounting for present-day diversity. The proportion of new recombinants and the diversity of the T(n) microsatellite were used to estimate the age of haplotype lineages and the time of colonization events. The lineage that underwent the great expansion originated in Africa prior to the Upper Paleolithic (27,000-56,000 years ago). A second group, of structurally distinct haplotypes that occupy a central position on the tree, has never left Africa. The third lineage is represented by the haplotype that lies closest to the root, is virtually absent in Africa, and appears older than the recent out-of-Africa expansion. We propose that this lineage could have left Africa before the expansion (as early as 160,000 years ago) and admixed, outside of Africa, with the expanding lineage. Contemporary human diversity, although dominated by the recently expanded African lineage, thus represents a mosaic of different contributions.     

Patterns of allozyme variation in cultivated and wild Sorghum bicolor

Summary Patterns of allozyme variation were surveyed in collections of cultivated and wild sorghum from Africa, the Middle East, and Asia. Data for 30 isozyme loci from a total of 2067 plants representing 429 accessions were analyzed. Regional levels of genetic diversity in the cultivars are greater in northern and central Africa compared to southern Africa, the Middle East, or Asia. The spatial distribution of individual alleles at the most variable loci was studied by plotting allele frequencies on geographic maps covering the distribution of sorghum. Generally, many of the alleles with frequencies below 0.25 are localized in specific portions of the range and are commonly present in more than one race in that region. Several alleles occur in both wild and cultivated sorghum of one region and are absent from sorghum elsewhere, suggesting local introgression between the wild and cultivated forms. Although the same most common allele was found in the wild and cultivated gene pools at 29 of the 30 loci, phenetic analyses separated the majority of wild collections from the cultivars, indicating that the two gene pools are distinct. Wild sorghum from northeast and central Africa exhibits greater genetic similarities to the cultivars compared to wild sorghum of northwest or southern Africa. This is consistent with the theory that wild sorghum of northeast-central Africa is ancestral to domesticated sorghum. Wild sorghums of race arundinaceum of northwest Africa and race virgatum from Egypt are shown to be genetically distinct from both other forms of wild sorghum and from the cultivars. Suggestions for genetic conservation are presented in light of these data.     

Genetic position of Andalusians from Huelva in relation to other European and North African populations: a study based on GM and KM allotypes

An understanding of population relationships in the Mediterranean region is crucial to the reconstruction of recent human evolution. Andalusia, the most southern region of Spain, has been continuously and densely occupied since ancient times and has a rich history of contacts with many different Mediterranean populations. Thus, to understand the Mediterranean peopling process, investigators should analyze the population relationships between the Iberian peninsula and northern Africa based on an assessment of genetic diversity that takes Andalusia into consideration. The aim of this study was to address the extent of genetic variation in the Iberian peninsula between its geographic extremes (Huelva and the Basque area) and to explain the intensity of the phylogenetic relationships between Andalusians and other neighboring populations, such as those from North Africa. We present, for the first time, results on allotype markers (GM and KM) of human immunoglobulins in the Andalusian population from Huelva. The most frequent GM haplotypes in Andalusia correspond to those that are also the most common in Europe. A sub-Saharan haplotype was found at a relatively high frequency compared to other Iberian samples, and a North Asian marker did not reach polymorphic frequencies in the study sample. A hierarchical cluster analysis based on the first two principal components (94.1% of the total genetic variance) revealed an interesting geographic structure for the 49 populations selected from the literature. The Huelva sample showed a central position in the multivariate space--despite being geographically located at one of the extremes of the Mediterranean basin--and clustered with most Western European populations. Western Europe and Eastern Europe (the latter group paradoxically including Italy and the major islands of the western Mediterranean) were differentiated. North African populations were grouped in two clusters that did not separate either Arabs and Berbers or their present-day countries. Analysis of immunoglobulin allotype markers shows that gene flow among human populations should generally be interpreted in terms of complex patterns, with the observed frequencies being the consequence of the entire genetic and demographic history of the population. Single historical events rarely determine gene frequencies in large human populations. Analysis of the GM system has shown that the Andalusian population from Huelva, as a result of its complex history, is not simply an outstanding part of the Mediterranean world but rather the genetic center of gravity of that world.     

Invasion of rocky shores by a mytilid mussel reveals an abundant-centre distribution coupled with moderate increases in densities at its absolute range limits

Semimytilus patagonicus is an invasive mussel on the coast of southern Africa and has extended its range in recent years. We asked whether its distribution and abundance are consistent with the abundant-centre hypothesis (ACH). Marginal populations were located by monitoring 33 rocky shore sites in South Africa and southern Namibia in 2021. This revealed no changes to its distributional limits since 2020. At nine of these sites, population demography was measured to allow a comparison of their densities and size structure. Four were central populations on the west coast of South Africa (including the site where the species was first detected in 2009). Four were marginal populations in South Africa: two towards the cold range edge in the north and two towards the warm range edge to the south. The ninth population was in southern Namibia, representing a recent invasion event first detected in 2014. Across the species' South African range, the distribution of its abundance was generally consistent with the ACH, with the greatest abundance at its range centre and a gradual decrease towards the range edges. However, the ultimate marginal population at both its cold and warm range edges showed moderate upticks in abundance compared to the penultimate marginal populations. Additionally, marginal populations in South Africa typically included a greater proportion of large individuals. Recruitment intensity was greater in warm range edge populations than cold range edge populations. The size structure of the population in Namibia resembled those of central populations in South Africa. Moderate increases in densities at the absolute range limits suggest that the species is currently undergoing spread into regions associated with moderately optimal environmental conditions (ultimate range edge sites) after encountering regions associated with suboptimal environmental conditions (penultimate range edge sites).     

Variation in the gene frequencies of three generations of humans from Monterrey, Nuevo León, Mexico

Allele frequencies for the ABO, Rh, MNSs, Duffy, Kidd, Lutheran, P and Lewis blood group systems in 207 persons whose 4 grandparents were born in the Monterrey Metropolitan area (MMA), grouped into 3 generations, were ascertained along with other related population from the MMA, Mestizos from Saltillo, Coahuila and Tlaxcala, and from the populations thought to have contributed to their genetic constitution (native Mexican Indians and Spanish). Genetic admixture and distance estimates were calculated. Gene frequencies of the three generations from MMA are intermediate to those of the ancestral populations, indicating that they are Mestizo but with a genetic structure different from Mestizos of Saltillo and Tlaxcala. Both genetic admixture and distance estimates indicate that the oldest generation exhibits the greatest Spanish influence which decreases in the youngest generation and in the other MMA populations as a result of the immigration from the central states of Mexico.     

Blood groups and natural selection by genetical environment

A survey is given of a number of investigations indicating the importance in natural selection of the genetical environment of populations and individuals.In the introduction it is observed that blood group frequency patterns are very stable, even in very small populations, and appear independent of environmental factors. They appear to be race-specific, maintained by a process of natural selection which is dependent of the racial genetical composition. Indications in favour of this hypothesis are obtained from several studies carried out in populations of mixed origin:The introduction on a small scale into the populations of New Guinea of foreign elements with some S genes may result in a population with relatively high S frequencies; the frequencies of certain of the blood group genes in the mixed negroid populations of Curaçao are not in agreement with the racial compositions of the mixtures as they have been calculated from the frequencies of other blood group genes, and the same appears to be the case in the populations of the Himalayas. The marked variation of MNSsHe frequencies in Africa may perhaps be explained by a powerful selective pressure exercized by the genetical backgrounds of the various populations, as is demonstrated by the absence of some expected genotypes among male Bush Negroes in Surinam.The effects of natural selection by genetical environment can also be demonstrated by family studies:In families with elliptocytosis Rhesus segregation shows some deviation from Mendelian laws, and the ratio of elliptocytosis-positive and-negative children appears to depend on the Rh genotype of the elliptocytosis-positive parent. From blood group studies in selected pedigrees and dizygotic twins it appears that twin pairs are more often doubly concordant for both MN and Rh than is to be expected.Some implications of the observed effects of natural selection in the study of human genetics and population dynamics are briefly discussed.     

Mitochondrial DNA diversity in two ethnic groups in Southeastern Kenya: Perspectives from the northeastern periphery of the bantu expansion

The Bantu languages are widely distributed throughout sub‐Saharan Africa. Genetic research supports linguists and historians who argue that migration played an important role in the spread of this language family, but the genetic data also indicates a more complex process involving substantial gene flow with resident populations. In order to understand the Bantu expansion process in east Africa, mtDNA hypervariable region I variation in 352 individuals from the Taita and Mijikenda ethnic groups was analyzed, and we evaluated the interactions that took place between the Bantu‐ and non‐Bantu‐speaking populations in east Africa. The Taita and Mijikenda are Bantu‐speaking agropastoralists from southeastern Kenya, at least some of whose ancestors probably migrated into the area as part of Bantu migrations that began around 3,000 BCE. Our analyses indicate that they show some distinctive differences that reflect their unique cultural histories. The Taita are genetically more diverse than the Mijikenda with larger estimates of genetic diversity. The Taita cluster with other east African groups, having high frequencies of haplogroups from that region, while the Mijikenda have high frequencies of central African haplogroups and cluster more closely with central African Bantu‐speaking groups. The non‐Bantu speakers who lived in southeastern Kenya before Bantu speaking groups arrived were at least partially incorporated into what are now Bantu‐speaking Taita groups. In contrast, gene flow from non‐Bantu speakers into the Mijikenda was more limited. These results suggest a more complex demographic history where the nature of Bantu and non‐Bantu interactions varied throughout the area. Am J Phys Anthropol 150:482–491, 2013. © 2013 Wiley Periodicals, Inc.     

Comparison of three regimens for malaria prophylaxis in travellers to east,central, and southern Africa.

OBJECTIVES--Confirmation of breakthroughs in three different malaria chemoprophylactic regimens (chloroquine 300 mg weekly and proguanil 100 mg daily; chloroquine 300 mg weekly and proguanil 200 mg daily; proguanil 200 mg daily) and assessment of compliance. DESIGN--Prospective, randomised multicentre trial. SETTING--Five vaccination centres in the Netherlands. SUBJECTS--Dutch travellers to east, central, and southern Africa. MAIN OUTCOME MEASURES--Plasmodium falciparum seen on blood film; concentrations of drugs measured in blood spots. RESULTS--P falciparum infection was confirmed in 12 (21%) of 58 travellers with fever suspected to be due to malaria. No difference in prophylaxis failures between the regimens was found. Breakthroughs were difficult to confirm, as compliance could be determined in only 30% of the participants with fever and chloroquine in their regimen. One breakthrough was proved. The risk per 1000 people per month for travellers was 5.4 (95% confidence interval 2.4 to 12.6) for chloroquine 300 mg weekly and proguanil 100 mg daily, 2.8 (0.9 to 10.1) for chloroquine 300 mg weekly and proguanil 200 mg daily, and 6.0 (2.6 to 14.0) for proguanil 200 mg daily. CONCLUSION--Prophylaxis failures occurred in less than 1% of the participants, and only 21% of those with a fever were suffering from falciparum malaria. Compliance was moderate. The chloroquine-proguanil combination can still be recommended for visitors to east, central, and southern Africa.     

Characteristics of the EEG power and coherent structure of term and premature children during the first postnatal year

Objective of the study involved characteristics of the spectre of the EEG power and coherent structure in children of different degree of maturity in the first month of their postnatal development. 32 children were divided into three groups: 1) 38-41 weeks (11 children); 2) 34-36 weeks (12 children); 3) 30-33 weeks (9 children). At the moment of the study the children's chronological age was as follows: in the 1st and 2nd groups--19 +/- 1, in the 3rd group--30 +/- 4 days. In the 1st group (mature children), a considerable power of delta- and theta-range frequencies was registered as compared with the 2nd and 3rd groups. In the 1st group children, a central gradient of power of the delta and theta frequencies was noted as well as a central-occipital one for alpha-frequencies. In the 2nd group (34-36 weeks), a lesser power of the delta-, theta- and alpha-frequencies was noted as well as a smoothed central gradient of these frequencies as compared with the 1st group. In the 3rd group, the power of delta-frequencies in frontal leads and power of alpha-frequencies in most EEG leads did not differ from those in the 1st group, and an obvious frontal gradient of delta-frequency power was noted as well as the frontal-central one for the theta- and alpha-frequencies. In all the groups, three foci of coherent interaction among the brain areas were registered: anterior, central and posterior. The coherence of biopotentials was registered on the frequencies of delta-, theta- and alpha-ranges. The maximum level of coherence was registered in the delta-range. In immature children, as compared with mature ones, a higher level of coherence was registered in the theta- and alpha-frequencies.     

On the distribution of some genetic markers in libya.

On a sample of N equals 169 nonrelated blood donors from Libya several blood group, serum protein group and enzyme frequencies are within the range of those of other Caucasoid populations. However, the frequencies of cDe, Jk-a, Fy-c, Hp-1, Gc-1, aP-b and AK-1 show some greater differences and seem to indicate certain Negroid influence on the genetic composition of our Libyan sample. This assumption is conceivable considering the racial history of Libya.     

Moroccan mitochondrial genetic background suggests prehistoric human migrations across the Gibraltar Strait

Migrations into Africa from the Levant have greatly determined the mitochondrial genetic landscape of North Africa. After analyzing samples from North Morocco to Spain, we show that three fourths of the Moroccan individuals belong to Western Eurasian haplogroups and the frequencies of these are much more similar to those of the Iberian Peninsula than to those of the Middle East. This is particularly true for the mitochondrial haplogroups H1, H3 and V, which experienced a late-glacial expansion from this region, that repopulated much of Central and Northern Europe. Iberian Peninsula was also a source for prehistoric migrations to North Africa.     

The A-B-O blood groups of baboons

A new series of 188 baboons, Papio papio, Senegal, have been tested for the human type A-B-O groups with the following results: 2 group O, 27 group A, 93 group B and 66 group AB. This distribution fits the Hardy-Weinberg formula perfectly, using the allele frequencies O = 10.3%, A = 29.0%, and B = 60.8%. Up to date, five series of baboons comprising a total of 684 animals have been tested for their A-B-O groups. On these 684 baboons, from three different species, only three belonged to group O. Nevertheless, there is convincing indirect evidence that in most of the baboon species tested so far the frequency of gene O is about 10%. There are significant differences in the distribution of the blood groups in the various baboon species, comparable to the differences in racial distribution of the A-B-O blood groups in man, e.g., the frequency of gene A ranges from 18.2% in Papio ursinus, South Africa, to 48.3% in Papio cynocephalus. The usefulness of the methods of population genetics, viz, allele frequency analysis, for studies of blood groups in primates is demonstrated. The differences and similarities between the A-B-O blood groups in man and baboons are discussed.     

Bimodal distribution of sensitivity to SCE induction by diepoxybutane in human lymphocytes. II. Relationship to baseline SCE frequency

Environmental and genetic factors have been implicated as important sources of individual variation in baseline sister-chromatid exchange (SCE) frequency in humans. The current study was designed to test whether the frequency of baseline SCEs in 58 normal blood donors is associated with previously observed variations in SCE frequencies induced by diepoxybutane (DEB). Because 12 subjects were current cigarette smokers and smoking is known to be an in vivo inducer of baseline SCE frequencies, we specifically tested whether higher baseline SCE frequencies in smokers would be associated with in vitro sensitivity to SCE induction by DEB. Analysis of variance showed that DEB-induced SCE frequencies were significantly associated with baseline SCE frequencies; those who were sensitive to SCE induction by DEB were more likely to have higher baseline SCE frequencies. This effect, however, was independent of in vivo induction of SCE by smoking. Chromosomal sensitivity to the induction of SCE by DEB explained approx. 15-20% of the variation in baseline SCE. This was similar in magnitude to the effect of cigarette smoking. Because increased sensitivity to DEB-induced SCEs is common in normal blood donors (approx. 24%) and is associated with an increase in baseline SCEs, it should be investigated as a source of bias and/or a potential marker of sensitivity to environmental mutagens in future cytogenetic studies.     

Mitochondrial DNA variability in Giraffa camelopardalis: consequences for taxonomy, phylogeography and conservation of giraffes in West and central Africa

The giraffe (Giraffa camelopardalis) still survives in four countries of West and central Africa. The populations of Niger and Cameroon are generally assigned to the subspecies peralta, but those of Chad and the Central African Republic are taxonomically problematic, as they are referred to as either peralta, or antiquorum, or congoensis. In this study, a mitochondrial fragment of 1765 nucleotide sites, covering the complete cytochrome b gene, three transfer RNAs and a large part of the control region, was sequenced to assess the relationships between several populations of giraffe. The phylogenetic analyses performed on the 12 identified haplotypes indicate that northern giraffes constitute a natural group, distinct from that of southern giraffes. Surprisingly, the giraffes of Niger are found to be more closely related to the giraffes of East Africa (subspecies rothschildi and reticulata) than to those of central Africa. We conclude therefore that the subspecies peralta contains only the Niger giraffes, whereas the subspecies antiquorum includes all populations living in Cameroon, Chad, the Central African Republic, and southwestern Sudan. We suggest that the ancestor of the Nigerian giraffe dispersed from East to North Africa during the Quaternary period and thereafter migrated to its current Sahelian distribution in West Africa, in response to the development of the Sahara desert. This hypothesis implies that Lake Mega-Chad acted as a strong geographical barrier during the Holocene, preventing any contact between the subspecies peralta and antiquorum. Our study has direct implications for conservation management, as we show that no subspecies peralta is represented in any European zoos, only in Niger, with a small population of less than 200 individuals.     

The significance of the oil palm (Elaeis guineensis Jacq.) in the late Holocene environments of west and west central Africa: A further consideration

Abundant archaeological evidence of the occurrence of the endocarp of the oil palm,Elaeis guineensis, in the rain forest and woodland savanna zones of west and central Africa from about 5000 B.P. has shown the tree to be an important element in the subsistence economy of the region; its pollen also has been recorded in most of the regional terrestrial sediments studied so far. The distinct and consistently sudden and more marked increases in this pollen during the late Holocene when compared with the late Tertiary and late Pleistocene frequencies strongly indicate that the late Holocene upsurges were due to both natural and human factors favourable for the expansion of this heliophytic tree. Reasons are given for suggesting that upsurges in oil palm pollen during the late Holocene period in this region can be used as indices of plant cultivation. While the oil palm is known from early Tertiary deposits in west Africa, its earliest palynological record from terrestrial sediments in the west central part dates back only to the early Holocene. More palynological studies of Tertiary and Quaternary terrestrial cores are required to establish with more certainty the antiquity ofE. guineensis in west central Africa.