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There is evidence from both behavior and brain activity that the way information is structured, through the use of focus, can up-regulate processing of focused constituents, likely to give prominence to the relevant aspects of the input. This is hypothesized to be universal, regardless of the different ways in which languages encode focus. In order to test this universalist hypothesis, we need to go beyond the more familiar linguistic strategies for marking focus, such as by means of intonation or specific syntactic structures (e.g., it-clefts). Therefore, in this study, we examine Makhuwa-Enahara, a Bantu language spoken in northern Mozambique, which uniquely marks focus through verbal conjugation. The participants were presented with sentences that consisted of either a semantically anomalous constituent or a semantically nonanomalous constituent. Moreover, focus on this particular constituent could be either present or absent. We observed a consistent pattern: Focused information generated a more negative N400 response than the same information in nonfocus position. This demonstrates that regardless of how focus is marked, its consequence seems to result in an upregulation of processing of information that is in focus.
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Idioma , Humanos , Feminino , Masculino , Adulto , Moçambique , Eletroencefalografia , Semântica , Encéfalo/fisiologia , Adulto Jovem , Linguística , Potenciais Evocados/fisiologiaRESUMO
The Bantu expansion transformed the linguistic, economic, and cultural composition of sub-Saharan Africa. However, the exact dates and routes taken by the ancestors of the speakers of the more than 500 current Bantu languages remain uncertain. Here, we use the recently developed "break-away" geographical diffusion model, specially designed for modeling migrations, with "augmented" geographic information, to reconstruct the Bantu language family expansion. This Bayesian phylogeographic approach with augmented geographical data provides a powerful way of linking linguistic, archaeological, and genetic data to test hypotheses about large language family expansions. We compare four hypotheses: an early major split north of the rainforest; a migration through the Sangha River Interval corridor around 2,500 BP; a coastal migration around 4,000 BP; and a migration through the rainforest before the corridor opening, at 4,000 BP. Our results produce a topology and timeline for the Bantu language family, which supports the hypothesis of an expansion through Central African tropical forests at 4,420 BP (4,040 to 5,000 95% highest posterior density interval), well before the Sangha River Interval was open.
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Idioma , Floresta Úmida , África Central , Teorema de Bayes , População Negra , Migração Humana , Humanos , Filogeografia , RiosRESUMO
Mean Length of Utterance (MLU) has been widely used to measure children's early language development in a variety of languages. This study investigates the utility of MLU to measure language development in four agglutinative and morphologically complex Southern Bantu languages. Using a variant of MLU, MLU3, based on the three longest sentences children produced, we analysed the utterances of 448 toddlers (16-32 months) collected using the MacArthur-Bates Communicative Development Inventory, a parent-report tool. MLU3, measured in words (MLU3-w) and morphemes (MLU3-m), significantly correlated with age and other indices of language growth (e.g., grammar and vocabulary). MLU3 measures also accounted for significant variance in language development particular morphosyntactic development. Our results suggest that MLU3-m is a more sensitive measure than MLU3-w. We conclude that MLU measured in morphemes provides a useful addition to other indices of language development in these kinds of morphologically complex languages.
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Introduction: Yaws, an infectious dermatosis is one of 17 neglected tropical diseases still present in the world despite the efforts aiming at the eradication of the disease undertaken in 2020. It is mainly found in populations living in poor hygiene conditions with a limited access to water and health care facilities. BaAka Pygmies and Bantu people inhabiting the rural areas of the Central African Republic (CAR) are still affected by yaws on a large scale. Aim: To assess the prevalence of yaws in Central Africa, treatment accessibility, and the need for implementing future health programs. Material and methods: Primary school BaAka Pygmy and Bantu children from the Dzanga Sangha region (CAR) were assessed in the context of yaws prevalence in years 2019-2020. The diagnosis was based on the clinical picture of the typical skin lesions and their location. Serologic tests were not performed. Results: Four hundred and ninety-four Pygmies and 235 Bantu children were examined, of whom 38.7% and 43.0%, respectively, presented primary yaws lesions. The mean age of Pygmy and Bantu children with lesions was 9.1 and 9.7 years old, respectively. In both ethnic groups boys predominated. The most common location of yaws lesions were lower legs, ankles, knees and feet. Conclusions: Yaws, like all other neglected tropical diseases, might become a cosmopolitan skin disease transferred from Africa to Europe and North America by tourists travelling to sub-Saharan destinations in Africa and migrants. The knowledge of tropical skin diseases and ability to make a differential diagnosis might become necessary for each dermatologist in the next 10-20 years.
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The Bantu expansion, which started in West Central Africa around 5,000 BP, constitutes a major migratory movement involving the joint spread of peoples and languages across sub-Saharan Africa. Despite the rich linguistic and archaeological evidence available, the genetic relationships between different Bantu-speaking populations and the migratory routes they followed during various phases of the expansion remain poorly understood. Here, we analyze the genetic profiles of southwestern and southeastern Bantu-speaking peoples located at the edges of the Bantu expansion by generating genome-wide data for 200 individuals from 12 Mozambican and 3 Angolan populations using â¼1.9 million autosomal single nucleotide polymorphisms. Incorporating a wide range of available genetic data, our analyses confirm previous results favoring a "late split" between West and East Bantu speakers, following a joint passage through the rainforest. In addition, we find that Bantu speakers from eastern Africa display genetic substructure, with Mozambican populations forming a gradient of relatedness along a North-South cline stretching from the coastal border between Kenya and Tanzania to South Africa. This gradient is further associated with a southward increase in genetic homogeneity, and involved minimum admixture with resident populations. Together, our results provide the first genetic evidence in support of a rapid North-South dispersal of Bantu peoples along the Indian Ocean Coast, as inferred from the distribution and antiquity of Early Iron Age assemblages associated with the Kwale archaeological tradition.
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População Negra/genética , Cromossomos Humanos/genética , Genômica/métodos , Polimorfismo de Nucleotídeo Único , Angola/etnologia , População Negra/etnologia , Emigração e Imigração , Evolução Molecular , Genética Populacional , Humanos , Índia/etnologia , Oceano Índico , Moçambique/etnologia , FilogeografiaRESUMO
Somali refugees have resettled in the United States in large numbers. The focus of this study was specifically on the Somali Bantu refugees, an ethnic minority group from Somalia. The goal of this study was to understand the following: (a) jinn (invisible beings or forces in Islamic theology) and related health problems resulting from jinn possession affecting Somali Bantu refugees, (b) types of traditional healing practices integrated into help-seeking behavior, and (c) pathways of care utilized to address health problems. In total, 20 participant interviews were conducted with Somali Bantu refugees resettled in the United States. Overall, participants described types of jinn and associated health problems. In addition, participants identified different pathways of care, including formal and informal health care. Participants accessed these pathways both concurrently and sequentially. Somali Bantu utilize complex and varied health care services based on their understanding of the causes of health problems and experiences with care providers.
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Comportamento de Busca de Ajuda , Refugiados , Etnicidade , Humanos , Medicina Tradicional , Grupos Minoritários , Somália , Estados UnidosRESUMO
A phoneme-detection task shows that listeners of Sepedi use semantic information in processing but not prosody (Experiment 1). Sepedi is a language with no grammaticalised prosodic expression of focus. Sepedi listeners detected phoneme targets faster when the phoneme-bearing words were focussed (as opposed to unfocussed) but not when occurring in a context conducive to prosodic emphasis (as opposed to non-conducive). Experiment 2 tested the role of semantic focus and prosody in processing by Sepedi L1/English L2 listeners (English being a language with systematic focus-to-accent mapping). Non-native listeners detected phoneme-bearing words faster in focussed condition (as opposed to unfocussed) and in accented condition (as opposed to deaccented). The results suggest that the L2 prosodic structure is exploited by Black South African English listeners even if this feature is not present in their L1. Our experiments replicate the pattern of results found in Akker and Cutler's (Biling Lang Cogn 6:81-96, 2003) experiment for Dutch L1/ English L2 listeners, even with listeners whose L1 does not use prosody the way English does.
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Idioma , Percepção da Fala , Humanos , SemânticaRESUMO
BACKGROUND: Bioko is one of the few islands that exist around Africa, the most genetically diverse continent on the planet. The native Bantu-speaking inhabitants of Bioko, the Bubi, are believed to have colonized the island about 2000 years ago. Here, we sequenced the genome of thirteen Bubi individuals at high coverage and analysed their sequences in comparison to mainland populations from the Gulf of Guinea. RESULTS: We found that, genetically, the closest mainland population to the Bubi are Bantu-speaking groups from Angola instead the geographically closer groups from Cameroon. The Bubi possess a lower proportion of rainforest hunter-gatherer (RHG) ancestry than most other Bantu-speaking groups. However, their RHG component most likely came from the same source and could have reached them by gene flow from the mainland after island settlement. By studying identity by descent (IBD) genomic blocks and runs of homozygosity (ROHs), we found evidence for a significant level of genetic isolation among the Bubi, isolation that can be attributed to the island effect. Additionally, as this population is known to have one of the highest malaria incidence rates in the world we analysed their genome for malaria-resistant alleles. However, we were unable to detect any specific selective sweeps related to this disease. CONCLUSIONS: By describing their dispersal to the Atlantic islands, the genomic characterization of the Bubi contributes to the understanding of the margins of the massive Bantu migration that shaped all Sub-Saharan African populations.
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Genômica , Migração Humana , Ilhas , Idioma , África , Animais , Oceano Atlântico , HomozigotoRESUMO
BACKGROUND: High salt intake increases blood pressure (BP) and hypertension risk. This study aimed to examine association of urinary sodium excretion with BP and hypertension correlates among Cameroonian pygmies under hunter-gatherer subsistence mode and Bantus, living in urban area under unhealthy behavioral habits. METHODS: In this cross-sectional cluster sampling study, we randomly enrolled rural pygmies living in Lolodorf and urban Bantus living in Douala. The World Health Organization steps questionnaire was used to collect socio-demographic and lifestyle data. Height, weight, BP and single overnight spot urine samples were obtained in all participants. BP was measured in triplicate. Urinary sodium and potassium excretion was determined by flame photometry. Data were recorded and analyzed using SPSS 16.0. RESULTS: We included 150 Pygmies and 150 Bantus aged 38 ± 12 years and 33 ± 11 years, respectively (p < 0.0001). Compare to Bantus, pygmy's height and weight were respectively: 1.54 ± 0.09 m vs 1.72 ± 0.12 m; and 54.4 ± 9.2 kg vs 77.2 ± 14.8 kg, all p < 0.0001. Age-standardized prevalence of hypertension was 3.3% among Pygmies and 28% among Bantus (p < 0.0001). Age-adjusted systolic and diastolic BP were lower in Pygmies than in Bantus (107 ± 12 vs 119 ± 17 mmHg and 71 ± 11 vs 78 ± 13 mmHg respectively, all P < 0.0001). BP increased with age but to a lesser extent in Pygmies (all p < 0.01). Urinary sodium excretion was lower in Pygmies than in Bantus (46.9 ± 32.4 vs 121.5 ± 61.0 mmol/l, p < 0.0001). Systolic and diastolic BP were positively associated with urinary sodium excretion in Bantus (all p < 0.05). In the two groups, urinary potassium excretion was similar, and was not related to blood pressure. In the total study group and in Bantus taken separately, urinary sodium excretion was higher in hypertensive than in normotensive subjects. Multivariable logistic regression showed that urinary sodium excretion, Bantu status and age emerged as independent determinants of hypertension in the whole study group (OR (95%CI): 1.012 (1.005-1.018); 11.408 (3.599-36.165); 1.095 (1.057-1.135) respectively, p < 0.0001). CONCLUSION: Hunter-gatherer pygmies exhibit low level of urinary sodium excretion related to low rate of hypertension and slower BP increase with age. Salt intake was a major driver of hypertension in our study population. Our findings highlight the need of efforts to implement nationwide prevention programs promoting risk factor screening and healthier lifestyles including reduction of dietary salt intake in Cameroonian.
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População Negra , Pressão Sanguínea , Hipertensão/etnologia , Hipertensão/fisiopatologia , Natriurese , Cloreto de Sódio na Dieta/efeitos adversos , Sódio/urina , Adulto , Distribuição por Idade , Fatores Etários , Biomarcadores/urina , Camarões/epidemiologia , Estudos Transversais , Comportamento Alimentar/etnologia , Feminino , Humanos , Hipertensão/diagnóstico , Hipertensão/urina , Masculino , Pessoa de Meia-Idade , Potássio/urina , Prevalência , Fatores de Risco , Saúde da População Rural/etnologia , Cloreto de Sódio na Dieta/urina , Migrantes , Saúde da População Urbana/etnologia , Adulto JovemRESUMO
OBJECTIVES: We investigated the genetic history of southern African populations with a special focus on their paternal history. We reexamined previous claims that the Y-chromosome haplogroup E1b1b (E-M293) was brought to southern Africa by pastoralists from eastern Africa, and investigated patterns of sex-biased gene flow in southern Africa. MATERIALS AND METHODS: We analyzed previously published complete mtDNA genome sequences and â¼900 kb of NRY sequences from 23 populations from Namibia, Botswana, and Zambia, as well as haplogroup frequencies from a large sample of southern African populations and 23 newly genotyped Y-linked STR loci for samples assigned to haplogroup E1b1b. RESULTS: Our results support an eastern African origin for Y-chromosome haplogroup E1b1b (E-M293); however, its current distribution in southern Africa is not strongly associated with pastoralism, suggesting more complex demographic events and/or changes in subsistence practices in this region. The Bantu expansion in southern Africa had a notable genetic impact and was probably a rapid, male-dominated expansion. Our finding of a significant increase in the intensity of the sex-biased gene flow from north to south may reflect changes in the social dynamics between Khoisan and Bantu groups over time. CONCLUSIONS: Our study shows that the population history of southern Africa has been complex, with different immigrating groups mixing to different degrees with the autochthonous populations. The Bantu expansion led to heavily sex-biased admixture as a result of interactions between Khoisan females and Bantu males, with a geographic gradient which may reflect changes in the social dynamics between Khoisan and Bantu groups over time.
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População Negra/genética , Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Fluxo Gênico/genética , África Austral , Antropologia Física , Feminino , Genética Populacional , Haplótipos/genética , Migração Humana , Humanos , MasculinoRESUMO
OBJECTIVES: Southern Angola is a poorly studied region, inhabited by populations that have been associated with different migratory movements into southern Africa. Apart from Kx'a-speaking San foragers and Bantu-speaking pastoralists, ethnographic and linguistic studies have suggested the existence of an enigmatic array of pre-Bantu communities, like the Kwepe (formerly Khoe-Kwadi speakers), Twa and Kwisi. Here, we evaluate previous peopling hypotheses by assessing the relationships between different southern Angolan populations, based on newly collected linguistic data and complete mtDNA genomes. MATERIALS AND METHODS: We analyzed 295 complete mtDNA genomes and linguistic data from seven groups from the Namib Desert (Himba, Kuvale, Tjimba, Twa, Kwisi, Kwepe) and Kunene Province (!Xun), placing special emphasis on the evaluation of the genealogical consistency of the matriclanic system that characterizes most of these groups. RESULTS: We found that the maternal genetic structure of all groups from the Namib Desert was strongly shaped by the consistency of their matriclanic system. The tracking of the maternal heritage enhanced population differentiation by genetic drift and is likely to have caused the divergent mtDNA profiles of the Kwepe, Twa, and Kwisi, who probably formed a single population within the spectrum of Bantu genetic variation. Model-based analyses further suggest that the dominant pastoral groups Kuvale and Himba may be grouped into a Bantu proto-population which also included the ancestors of present-day Tjimba and Herero, as well as the Khoe-Kwadi speaking Damara foragers from Namibia. DISCUSSION: The view from southwestern Angola offers a new perspective on the populating history of southern Africa and the Bantu expansions by showing that social stratification and different subsistence patterns are not always indicative of remnant groups, but may reflect Bantu-internal variation and ethnogenesis.
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População Negra , DNA Mitocondrial/genética , Angola/etnologia , Antropologia Física , Teorema de Bayes , População Negra/etnologia , População Negra/genética , População Negra/estatística & dados numéricos , Genealogia e Heráldica , Genética Populacional , Migração Humana , Humanos , FilogeniaRESUMO
OBJECTIVES: Odontometric studies of African populations show high within-group variation in tooth size. Overall, North Africans exhibit smaller dimensions than groups from eastern and southern sub-Saharan regions, but no previous studies have analyzed the full dental metrics among extant African Pygmy hunter-gatherers and Bantu-speaking farmers. Furthermore, the population variability in tooth crown sizes from equatorial rainforest regions remains to be elucidated. MATERIALS AND METHODS: The mesiodistal and buccolingual diameters of the permanent teeth (I1-M2) were measured in vivo using high-resolution replicas from Baka Pygmies and Mvae and Yassa Bantu-speakers from Cameroon (western Africa). Analyses of variance were used to record sex-related and population-level differences in tooth sizes, and a principal component analysis of geometrically scaled measures was used to plot the odontometric variability among groups. RESULTS: Cameroonian Baka Pygmies differ in dental size from their Bantu-speaking neighbors. Molar teeth are larger in Pygmies than in Bantu individuals, while the anterior dentition is larger in the Bantu. Baka males exhibit significantly larger teeth than females, whereas sexual dimorphism in non-Pygmies is only present in the anterior dentition. DISCUSSION: Odontometric patterns and the degree of sexual dimorphism in dental size differ among Central African groups, indicating adaptation to their different forager and farmer lifestyles. In particular, the admixture of Bantu-speakers in Baka populations is smaller than that in other western Pygmy groups. The greater dental phenetic diversity in Baka compared to that of the smaller-toothed farmers suggests that ecogenetic and microevolutionary factors are influencing a particular divergence scenario.
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População Negra/etnologia , Tamanho do Órgão/fisiologia , Dente/anatomia & histologia , Antropologia Física , Fazendeiros , Feminino , Humanos , Masculino , Odontometria , Caracteres SexuaisRESUMO
BACKGROUND: We aimed to investigate the distribution of selected BCL11A and HMIP polymorphisms (SNP's), and to assess the correlation with HPFH in a cohort of sickle cell patients. METHODS: A preliminary cross-sectional study was conducted in 102 patients. Group 1 was composed of patients with HPFH and Group 2 consisted of patients without HbF. We assessed 8 SNPs previously associated with HPFH in cohorts genetically close to the Congolese population. Observed frequencies were compared to expected frequencies. RESULTS: In the group 1, at rs7606173, the observed frequency for the genotype GG was significantly higher and the genotype GC was significantly lower than their respective expected frequencies. At rs9399137, the observed frequency of the genotype TT was significantly lower than expected. Conversely, the observed frequency of the genotype TC was significantly higher than expected. The observed frequency of the genotype TT at rs11886868 was significantly lower than the expected whereas the frequency of the genotype TC was significantly higher than observed. The lowest HbF level was recorded in patients with genotype CC at rs11886868. CONCLUSION: In this preliminary study, the results demonstrate that alleles of some of the 8 studied SNPs are not randomly distributed among patients with or without HPFH in this cohort.
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Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Proteínas de Transporte/genética , DNA Intergênico/genética , Proteínas de Ligação ao GTP/genética , Proteínas de Choque Térmico HSP70/genética , Proteínas Nucleares/genética , Fatores de Alongamento de Peptídeos/genética , Proteínas Proto-Oncogênicas c-myb/genética , Adolescente , Adulto , Criança , Estudos Transversais , República Democrática do Congo/epidemiologia , Hemoglobina Fetal , Frequência do Gene , Genótipo , Humanos , Proteínas Repressoras , Adulto JovemRESUMO
Unlike most other biological species, humans can use cultural innovations to occupy a range of environments, raising the intriguing question of whether human migrations move relatively independently of habitat or show preferences for familiar ones. The Bantu expansion that swept out of West Central Africa beginning â¼5,000 y ago is one of the most influential cultural events of its kind, eventually spreading over a vast geographical area a new way of life in which farming played an increasingly important role. We use a new dated phylogeny of â¼400 Bantu languages to show that migrating Bantu-speaking populations did not expand from their ancestral homeland in a "random walk" but, rather, followed emerging savannah corridors, with rainforest habitats repeatedly imposing temporal barriers to movement. When populations did move from savannah into rainforest, rates of migration were slowed, delaying the occupation of the rainforest by on average 300 y, compared with similar migratory movements exclusively within savannah or within rainforest by established rainforest populations. Despite unmatched abilities to produce innovations culturally, unfamiliar habitats significantly alter the route and pace of human dispersals.
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Ecossistema , Migração Humana/história , Comportamento Espacial/fisiologia , África Subsaariana , Teorema de Bayes , Simulação por Computador , Evolução Cultural , História Antiga , Humanos , Idioma/história , Modelos Genéticos , Filogeografia , Fatores de TempoRESUMO
Kinship provides the fundamental structure of human society: descent determines the inheritance pattern between generations, whereas residence rules govern the location a couple moves to after they marry. In turn, descent and residence patterns determine other key relationships such as alliance, trade, and marriage partners. Hunter-gatherer kinship patterns are viewed as flexible, whereas agricultural societies are thought to have developed much more stable kinship patterns as they expanded during the Holocene. Among the Bantu farmers of sub-Saharan Africa, the ancestral kinship patterns present at the beginning of the expansion are hotly contested, with some arguing for matrilineal and matrilocal patterns, whereas others maintain that any kind of lineality or sex-biased dispersal only emerged much later. Here, we use Bayesian phylogenetic methods to uncover the history of Bantu kinship patterns and trace the interplay between descent and residence systems. The results suggest a number of switches in both descent and residence patterns as Bantu farming spread, but that the first Bantu populations were patrilocal with patrilineal descent. Across the phylogeny, a change in descent triggered a switch away from patrifocal kinship, whereas a change in residence triggered a switch back from matrifocal kinship. These results challenge "Main Sequence Theory," which maintains that changes in residence rules precede change in other social structures. We also indicate the trajectory of kinship change, shedding new light on how this fundamental structure of society developed as farming spread across the globe during the Neolithic.
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População Negra , Filogenia , Comportamento Social , África Subsaariana/etnologia , Teorema de Bayes , Evolução Biológica , Feminino , Geografia , Humanos , Idioma , Masculino , Casamento , Método de Monte Carlo , Probabilidade , Características de ResidênciaRESUMO
Somali refugees are resettling in large numbers in the US, but little is known about the Somali Bantu, an ethnic minority within this population. Refugee youth mental health is linked to the functioning of the larger family unit. Understanding how the process of culturally adjusting to life after resettlement relates to family functioning can help identify what kind of interventions might strengthen families and lead to better mental health outcomes for youth. This paper seeks to address the following research questions: (1) How do different groups of Somali Bantu refugees describe their experiences of culturally adapting to life in the US?; and (2) How, if at all, do processes of cultural adaptation in a new country affect Somali Bantu family functioning? We conducted 14 focus groups with a total of 81 Somali Bantu refugees in New England. Authors analyzed focus groups using principles of thematic analysis to develop codes and an overarching theoretical model about the relationship between cultural adaptation, parent-child relationships, and family functioning. Views and expectations of parent-child relationships were compared between Somali Bantu youth and adults. Cultural negotiation was dependent upon broader sociocultural contexts in the United States that were most salient to the experience of the individual. Adult and youth participants had conflicting views around negotiating Somali Bantu culture, which often led to strained parent-child relationships. In contrast, youth sibling relationships were strengthened, as they turned to each other for support in navigating the process of cultural adaptation.
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Emigração e Imigração/tendências , Relações Familiares/psicologia , Refugiados/psicologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Negociação , Somália , Estados Unidos , Adulto JovemRESUMO
A consensus on Bantu-speaking populations being genetically similar has emerged in the last few years, but the demographic scenarios associated with their dispersal are still a matter of debate. The frontier model proposed by archeologists postulates different degrees of interaction among incoming agropastoralist and resident foraging groups in the presence of "static" and "moving" frontiers. By combining mitochondrial DNA and Y chromosome data collected from several southern African populations, we show that Bantu-speaking populations from regions characterized by a moving frontier developing after a long-term static frontier have larger hunter-gatherer contributions than groups from areas where a static frontier was not followed by further spatial expansion. Differences in the female and male components suggest that the process of assimilation of the long-term resident groups into agropastoralist societies was gender biased. Our results show that the diffusion of Bantu languages and culture in Southern Africa was a process more complex than previously described and suggest that the admixture dynamics between farmers and foragers played an important role in shaping the current patterns of genetic diversity.
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População Negra/etnologia , População Negra/genética , Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , África Austral/etnologia , Emigração e Imigração , Feminino , Variação Genética , Genética Populacional , Humanos , Masculino , Análise de Componente Principal , Análise de RegressãoRESUMO
OBJECTIVES: We investigated the frequency distribution and haplotype diversity of human African trypanosomiasis (HAT) resistance and lactase persistence (LP) variants in populations from the Angolan Namib to trace the spread of these genetic adaptations into southwestern Africa. MATERIALS AND METHODS: We resequenced two fragments of the LCT enhancer and the APOL1 gene and genotyped flanking short tandem repeat loci in six groups with different subsistence traditions living in the Angolan Namib, and in a comparative dataset including other populations from Africa and Europe. LP in the Angolan Namib is represented by the -14010*C allele, which is associated with a predominant haplotype that is shared with other southern and eastern African populations. While LP was found to be more frequent in foragers than in pastoralists, the frequencies of the two APOL1 variants associated with HAT-resistance (G1 and G2) did not differ between the two groups. The G1 allele is mostly associated with a single widespread haplotype. The G2 allele is linked to several haplotypes that are molecularly related to haplotypes found in other African Bantu-speaking populations. The putatively archaic G3 variant displayed more intra-allelic diversity in Africa than in Europe. DISCUSSION: The LP adaptation was carried to southern Africa by non-Bantu speaking pastoralists from eastern Africa, but an obvious link between its presence in southern Angola and groups speaking languages of the Khoe-Kwadi family, as previously found in other areas, could not be confirmed. The presence of APOL1 variants G1 and G2 is linked to the Bantu expansions. Our results suggest that the G3 variant was retained in modern humans by incomplete lineage sorting.
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População Negra/genética , População Negra/estatística & dados numéricos , Resistência à Doença/genética , Lactase/genética , Tripanossomíase Africana/genética , África Austral , Antropologia Física , Apolipoproteína L1 , Apolipoproteínas/genética , Frequência do Gene , Haplótipos , Humanos , Lipoproteínas HDL/genéticaRESUMO
Phenotypic heterogeneity for sickle cell disease is associated to several genetic factors such as genotype for sickle cell disease, ß-globin gene cluster haplotypes and Hb F levels. The coinheritance of Hb S (HBB: c.20A > T) and Hb D-Punjab (HBB: c.364G > C) results in a double heterozygosity, which constitutes one of the genotypic causes of sickle cell disease. This study aimed to assess the phenotypic diversity of sickle cell disease presented by carriers of the Hb S/Hb D-Punjab genotype and the Bantu [- + - - - -] haplotype. We evaluated medical records from 12 patients with sickle cell disease whose Hb S/Hb D-Punjab genotype and Bantu haplotype were confirmed by molecular analysis. Hb S and Hb D-Punjab levels were quantified by chromatographic analysis. Mean concentrations of Hb S and Hb D-Punjab were 44.8 ± 2.3% and 43.3 ± 1.8%, respectively. Painful crises were present in eight (66.7%) patients evaluated, representing the most common clinical event. Acute chest syndrome (ACS) was the second most prevalent manifestation, occurring in two individuals (16.7%). Three patients were asymptomatic, while another two exhibited greater diversity of severe clinical manifestations. Medical records here analyzed reported a significant clinical diversity in sickle cell disease ranging from the absence of symptoms to wide phenotypic variety. The sickle cell disease genotype, Bantu haplotype and hemoglobin (Hb) levels did not influence the clinical diversity. Thus, we concluded that the phenotypic variation in sickle cell disease was present within a specific genotype for disease regardless of the ß-globin gene cluster haplotypes.
Assuntos
Anemia Falciforme/genética , Hemoglobina Falciforme/análise , Hemoglobinas Anormais/análise , Fenótipo , Síndrome Torácica Aguda/etiologia , Anemia Falciforme/complicações , Anemia Sideroblástica , Genótipo , Haplótipos , Heterozigoto , Humanos , Dor/etiologia , Globinas beta/genéticaRESUMO
The majority of sub-Saharan Africans today speak a number of closely related languages collectively referred to as 'Bantu' languages. The current distribution of Bantu-speaking populations has been found to largely be a consequence of the movement of people rather than a diffusion of language alone. Linguistic and single marker genetic studies have generated various hypotheses regarding the timing and the routes of the Bantu expansion, but these hypotheses have not been thoroughly investigated. In this study, we re-analysed microsatellite markers typed for large number of African populations that-owing to their fast mutation rates-capture signatures of recent population history. We confirm the spread of west African people across most of sub-Saharan Africa and estimated the expansion of Bantu-speaking groups, using a Bayesian approach, to around 5600 years ago. We tested four different divergence models for Bantu-speaking populations with a distribution comprising three geographical regions in Africa. We found that the most likely model for the movement of the eastern branch of Bantu-speakers involves migration of Bantu-speaking groups to the east followed by migration to the south. This model, however, is only marginally more likely than other models, which might indicate direct movement from the west and/or significant gene flow with the western Branch of Bantu-speakers. Our study use multi-loci genetic data to explicitly investigate the timing and mode of the Bantu expansion and it demonstrates that west African groups rapidly expanded both in numbers and over a large geographical area, affirming the fact that the Bantu expansion was one of the most dramatic demographic events in human history.