Archaic lineages in the history of modern humans.
(25/1101)
An important question in the ongoing debate on the origin of Homo sapiens is whether modern human populations issued from a single lineage or whether several, independently evolving lineages contributed to their genetic makeup. We analyzed haplotypes composed of 35 polymorphisms from a segment of the dystrophin gene. We find that the bulk of a worldwide sample of 868 chromosomes represents haplotypes shared by different continental groups. The remaining chromosomes carry haplotypes specific for the continents or for local populations. The haplotypes specific for non-Africans can be derived from the most frequent ones through simple recombination or a mutation. In contrast, chromosomes specific for sub-Saharan Africans represent a distinct group, as shown by principal component analysis, maximum likelihood tree, structural comparison, and summary statistics. We propose that African chromosomes descend from at least two lineages that have been evolving separately for a period of time. One of them underwent range expansion colonizing different continents, including Africa, where it mixed with another, local lineage represented today by a large fraction of African-specific haplotypes. Genetic admixture involving archaic lineages appears therefore to have occurred within Africa rather than outside this continent, explaining greater diversity of sub-Saharan populations observed in a variety of genetic systems. (+info)
Hyperreactive malaria in expatriates returning from sub-Saharan Africa.
(26/1101)
The extreme presentation of hyperreactive malaria is hyperreactive malarial splenomegaly syndrome (HMS). Some patients present with a less pronounced syndrome. To investigate whether the degree of splenomegaly correlates with the degree of immune stimulation, whether prophylaxis or recent treatment play a role, and whether short therapy alone is effective, we examined retrospectively the medical records of expatriates with exposure to P. falciparum who attended our outpatient department from 1986 to 1997, particularly subacute symptoms or signs, strongly elevated malarial antibodies and elevated total serum IgM. We analysed duration of stay, prophlyaxis intake, spleen size, serum IgM levels and response to antimalarial treatment. Serum IgM levels were significantly higher in patients with larger splenomegaly. The use of chloroquine alone as treatment for presumptive or proved malaria attacks was correlated with larger spleen size. Short adequate antimalarial therapy resulted in marked improvement or complete recovery. In nine patients the hyperreactive response reappeared after re-exposure, in four of them twice. We conclude that patients with subacute symptoms but without gross splenomegaly may have very high levels of IgM and malarial antibodies, and relapse on re-exposure, suggesting the existence of a variant of the hyperreactive malarial splenomegaly syndrome without gross splenomegaly. (+info)
Lactase haplotype diversity in the Old World.
(27/1101)
Lactase persistence, the genetic trait in which intestinal lactase activity persists at childhood levels into adulthood, varies in frequency in different human populations, being most frequent in northern Europeans and certain African and Arabian nomadic tribes, who have a history of drinking fresh milk. Selection is likely to have played an important role in establishing these different frequencies since the development of agricultural pastoralism approximately 9,000 years ago. We have previously shown that the element responsible for the lactase persistence/nonpersistence polymorphism in humans is cis-acting to the lactase gene and that lactase persistence is associated, in Europeans, with the most common 70-kb lactase haplotype, A. We report here a study of the 11-site haplotype in 1,338 chromosomes from 11 populations that differ in lactase persistence frequency. Our data show that haplotype diversity was generated both by point mutations and recombinations. The four globally common haplotypes (A, B, C, and U) are not closely related and have different distributions; the A haplotype is at high frequencies only in northern Europeans, where lactase persistence is common; and the U haplotype is virtually absent from Indo-European populations. Much more diversity is seen in sub-Saharan Africans than in non-Africans, consistent with an "Out of Africa" model for peopling of the Old World. Analysis of recent recombinant haplotypes by allele-specific PCR, along with deduction of the root haplotype from chimpanzee sequence, allowed construction of a haplotype network that assisted in evaluation of the relative roles of drift and selection in establishing the haplotype frequencies in the different populations. We suggest that genetic drift was important in shaping the general pattern of non-African haplotype diversity, with recent directional selection in northern Europeans for the haplotype associated with lactase persistence. (+info)
Current status of malaria and potential for control.
(28/1101)
Malaria remains one of the world's worst health problems with 1.5 to 2.7 million deaths annually; these deaths are primarily among children under 5 years of age and pregnant women in sub-Saharan Africa. Of significance, more people are dying from malaria today than 30 years ago. This review considers the factors which have contributed to this gloomy picture, including those which relate to the vector, the female anopheline mosquito; to human activity such as creating new mosquito breeding sites, the impact of increased numbers of people, and how their migratory behavior can increase the incidence and spread of malaria; and the problems of drug resistance by the parasites to almost all currently available antimalarial drugs. In a selective manner, this review describes what is being done to ameliorate this situation both in terms of applying existing methods in a useful or even crucial role in control and prevention and in terms of new additions to the antimalarial armory that are being developed. Topics covered include biological control of mosquitoes, the use of insecticide-impregnated bed nets, transgenic mosquitoes manipulated for resistance to malaria parasites, old and new antimalarial drugs, drug resistance and how best to maintain the useful life of antimalarials, immunity to malaria and the search for antimalarial vaccines, and the malaria genome project and the potential benefits to accrue from it. (+info)
HIV/AIDS programmes should focus on improved access.(29/1101)
The challenge of chloroquine-resistant malaria in sub-Saharan Africa.
(30/1101)
For the last decade chloroquine-resistant Plasmodium falciparum (CRPF) has spread explosively in sub-Saharan Africa. In some areas of the continent, CRPF is so intense that chloroquine can hardly be said to have any efficacy. There is emerging evidence that CRPF is linked with increased incidence of mortality, severe disease and emergence of epidemics. Whereas the normal response to this trend of events would be replacing chloroquine with another effective drug, such a decision is hampered by the limited number of antimalarials currently available. There is a fear that changing too early would lead to depletion of available drugs. Yet a delay may be costly and catastrophic. Since the development of new antimalarials is deemed commercially unviable by high-income countries, there is need for a pan-African project aimed at the development of new antimalarials. Such a project could be jointly funded from African governments and the donor community under the coordination of either the World Health Organization or the Organization of African Unity. To delay the emergence and spread of resistance by P. falciparum to new and old drugs, there is need for: improving rational drugs use; limiting mass use of drugs as in chemoprophylaxis and in medicated salt; and increasing the use of impregnated bed nets. (+info)
Antenatal syphilis in sub-Saharan Africa: missed opportunities for mortality reduction.
(31/1101)
PURPOSE: Between 4-15% of pregnant women are believed to be infected with syphilis in sub-Saharan Africa. Active infection with syphilis in pregnant women results in foetal or infant death or disability for 50-80% of affected pregnancies, and is a major cause of adult morbidity as well. Antenatal syphilis screening is cheap and effective; however, it is often poorly implemented in countries with high syphilis risk. This study sought to estimate the missed opportunities for antenatal syphilis screening in sub-Saharan Africa. METHODS: Survey data were collected from 22 ministries of health in sub-Saharan Africa, complemented by data from published sources and key informants. Informants described their country's policies and experience with antenatal syphilis screening and estimated their national syphilis screening rates. FINDINGS: Seventy-three percent of women are reported by WHO to receive antenatal care in the study countries. Of women in antenatal care, 38% were estimated by survey respondents to be screened for syphilis. Costs and the organization of services were the principal reported obstacles to screening. With syphilis seroprevalence estimated at 8.3%, approximately 1 640 000 pregnant women with syphilis are undetected annually, including 1 030 000 women who attend antenatal care. DISCUSSION: Syphilis testing and treatment is a cost-effective intervention that deserves much greater attention, particularly in sub-Saharan Africa and other countries where syphilis infection is high. (+info)
High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian Peninsula.
(32/1101)
In the present study we have analyzed 44 Y-chromosome biallelic polymorphisms in population samples from northwestern (NW) Africa and the Iberian Peninsula, which allowed us to place each chromosome unequivocally in a phylogenetic tree based on >150 polymorphisms. The most striking results are that contemporary NW African and Iberian populations were found to have originated from distinctly different patrilineages and that the Strait of Gibraltar seems to have acted as a strong (although not complete) barrier to gene flow. In NW African populations, an Upper Paleolithic colonization that probably had its origin in eastern Africa contributed 75% of the current gene pool. In comparison, approximately 78% of contemporary Iberian Y chromosomes originated in an Upper Paleolithic expansion from western Asia, along the northern rim of the Mediterranean basin. Smaller contributions to these gene pools (constituting 13% of Y chromosomes in NW Africa and 10% of Y chromosomes in Iberia) came from the Middle East during the Neolithic and, during subsequent gene flow, from Sub-Saharan to NW Africa. Finally, bidirectional gene flow across the Strait of Gibraltar has been detected: the genetic contribution of European Y chromosomes to the NW African gene pool is estimated at 4%, and NW African populations may have contributed 7% of Iberian Y chromosomes. The Islamic rule of Spain, which began in a.d. 711 and lasted almost 8 centuries, left only a minor contribution to the current Iberian Y-chromosome pool. The high-resolution analysis of the Y chromosome allows us to separate successive migratory components and to precisely quantify each historical layer. (+info)