RESUMO
OBJECTIVES: To audit services for prenatal diagnosis for haemoglobin disorders in the United Kingdom. DESIGN: Comparison of the annual number of cases recorded in a United Kingdom register of prenatal diagnoses for haemoglobin disorders, with the annual number of pregnancies at risk of these disorders, by ethnic group and regional health authority. The number of pregnancies at risk was estimated using data on ethnic group from the 1991 census and data from the United Kingdom thalassaemia register, which records the number of babies born with thalassaemia. SETTING: The three national prenatal diagnosis centres for haemoglobin disorders. SUBJECTS: 2068 cases of prenatal diagnosis for haemoglobin disorders in the United Kingdom from 1974 to 1994. MAIN OUTCOME MEASURES: Utilisation of prenatal diagnosis by risk, ethnic group, and regional health authority. Proportion of referrals in the first trimester and before the birth of any affected child. RESULTS: National utilisation of prenatal diagnosis for haemoglobin disorders was around 20%. During the past 10 years it has remained steady at about 50% for thalassaemias and risen from 7% to 13% for sickle cell disorders. Utilisation for sickle cell disorders varies regionally from 2% to 20%. Utilisation for thalassaemias varies by ethnic group. It is almost 90% for Cypriots and ranges regionally for British Pakistanis from 0% to over 60%. About 60% of first prenatal diagnoses are done for couples without an affected child. Less than 50% of first referrals are in the first trimester. CONCLUSIONS: National utilisation of prenatal diagnosis for haemoglobin disorders is far lower than expected, and there are wide regional variations. A high proportion of referrals are still in the second trimester and after the birth of an affected child. The findings point to serious shortcomings in present antenatal screening practice and in local screening policies and to inadequate counselling resources, especially for British Pakistanis.
Assuntos
Hemoglobinopatias/diagnóstico , Diagnóstico Pré-Natal/estatística & dados numéricos , Revisão da Utilização de Recursos de Saúde , África/etnologia , Ásia/etnologia , Europa (Continente)/etnologia , Feminino , Triagem de Portadores Genéticos , Pesquisas sobre Atenção à Saúde , Acessibilidade aos Serviços de Saúde , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/etnologia , Humanos , Aceitação pelo Paciente de Cuidados de Saúde , Gravidez , Encaminhamento e Consulta , Estudos Retrospectivos , Fatores de Risco , Reino Unido/epidemiologia , Índias Ocidentais/etnologiaRESUMO
The first 360 base pairs of the mitochondrial DNA (mtDNA) major noncoding region from 82 individuals affiliated with the Brazilian Xavante, Zoró and Gavião tribes were sequenced. A total of 14 different lineages were observed, the largest number (8) being found among the Zoró. The latter share five lineages with the Gavião (who are their neighbors and are culturally similar to them), but only one with the Xavante. The lineages can be grouped into four clusters, previously identified by other authors. The 9 base pair deletion characteristic of Asian and Pacific populations occurs in 32% of the individuals, whose mtDNA was classified in five lineages, all grouped in one of the four clusters. Nucleotide diversity, as evaluated by three indices, are not much different from those observed in Indians from Central and North America, despite the fact that the Xavante consistently show lower numbers. These results do not confirm previous generalizations about the genetic diversity of Amerindians, and the need for additional studies in this system is stressed. © 1996 Wiley-Liss, Inc.
RESUMO
Mitochondrial DNA (mtDNA) haplotype diversity was determined for 46 Ngöbé Amerinds sampled widely across their geographic range in western Panamá. The Ngöbé data were compared with mtDNA control region I sequences from two additional Amerind groups located at the northern and southern extremes of Amerind distribution, the Nuu-Chah-Nulth of the Pacific Northwest and the Chilean Mapuche and from one Na-Dene group, the Haida of the Pacific Northwest. The Ngöbé exhibit the lowest mtDNA control region sequence diversity yet reported for an Amerind group. Moreover, they carry only two of the four Amerind founding lineages first described by Wallace and coworkers. We posit that the Ngöbé passed through a population bottleneck caused by ethnogenesis from a small founding population and/or European conquest and colonization. Dating of the Ngöbé population expansion using the Harpending et al. approach to the analysis of pairwise genetic differences indicates a Ngöbé expansion at roughly 6800 years before present (range: 1850-14,000 years before present), a date more consistent with a bottleneck at Chibcha ethnogenesis than a conquest-based event.
Assuntos
DNA Mitocondrial/genética , Variação Genética , Indígenas Centro-Americanos/genética , Arqueologia , Sequência de Bases , Feminino , Haplótipos/genética , Humanos , Masculino , Dados de Sequência Molecular , Panamá , Filogenia , Polimorfismo de Fragmento de Restrição , Alinhamento de SequênciaRESUMO
The genetic variation in a Chibcha-speaking Amerindian tribe from lower Central America, the Huetar, was analyzed using nucleotide sequences of the hypervariable segments of the mitochondrial DNA (mtDNA) control region, the frequencies of 10 Amerindian-specific mtDNA haplotypes, and the regional distribution of private protein polymorphisms. The sequencing of 713 base pairs (bp) in the control regions of 27 individuals revealed 11 distinct lineages. These were defined by 24 variable sites and a 6-bp deletion between nucleotide pairs (np) 106 and 111. The 6-bp deletion is a new mtDNA marker that will be valuable for Amerindian taxonomic research. Control region sequences and mtDNA haplotype analyses reveal that Huetar mtDNAs are distributed in "Amerindian clusters" A, B, and D. A maximum-likelihood phylogenetic tree suggests a single origin for the 6-bp Huetar deletion in the sample. mtDNA haplotype analysis and the presence of previously characterized private protein variants (PEPA*F, TF*DCHI, and the absence of DI*A) show that the Huetar harbor polymorphisms of considerable antiquity, suggesting an early divergence from the regional founder gene pool for this population. The data also reflect a drastic constriction in population size, an evolutionary event with a proposed central effect on Huetar genetic structure.
Assuntos
DNA Mitocondrial/genética , Variação Genética , Indígenas Centro-Americanos/genética , Sequência de Bases , Costa Rica , Deleção de Genes , Frequência do Gene , Haplótipos , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Polimorfismo Genético , Densidade DemográficaRESUMO
A general procedure is described for measuring and testing population differences in gametic frequencies. The total dispersion among populations is subdivided in hierachical fashion. The multiple-locus treatment is simply the sum of the single-locus analyses, provided gametic equilibrium obtains among the loci. In the event that gametic equilibrium does not obtain, correlations among loci need to be dealt with.--The analysis is then used to examine the genetic infrastructure of two Indian tribes from South America, the Ye'cuana (Makiritare) and the Yanomama. From historical evidence, we may identify several "clusters" of villages within each tribe. The demographic and cultural practices affecting village formation and the maintenance of peer integrity are rather different in these tribes, however, and lead us to postulate rather different patterns of genetic variation among villages. Analyses of five codominant two-allele loci, four dominant two-allele loci and two complex loci (with four codominant haplotypes each) demonstrate that Yanomama clusters are more disparate than Ye'cuana clusters, as would have been predicted on sociocultural grounds.
Assuntos
Frequência do Gene , Variação Genética , Indígenas Sul-Americanos , Antígenos de Grupos Sanguíneos , Brasil , Feminino , Genes Dominantes , Humanos , Masculino , Matemática , Probabilidade , VenezuelaRESUMO
The Yanomama Indians are a South American tribe distributed over an irregular area approximately 200 X 300 miles. The gene frequencies observed at 12 loci in 47 villages within this area have been analyzed for the occurrence of clines. Apparently significant clines are observed for alleles of the Rh, MNSs, Kidd, Gm, Inv and serum albumin system. Available data concerning recent tribal expansion and admixture permit a tentative analysis of the causes of these clines. Although the action of selection cannot be rigorously excluded, it seems unlikely to be the major couse. Admixture with surrounding tribes plays a role which can be quantified because of the fortuitous cicumstance of two genetic markers for admixture. It is suggested that an important factor in the origin of these clines is the manner in which the tribe has recently expanded through successive village fissionings and a predominantly centrifugal pattern of village migration.
Assuntos
Frequência do Gene , Genética Médica , Genética Populacional , Indígenas Sul-Americanos , Alelos , Brasil , Sistema do Grupo Sanguíneo Duffy , Feminino , Haptoglobinas , Humanos , Sistema do Grupo Sanguíneo Kidd , Antígenos do Grupo Sanguíneo de Lewis , Sistema do Grupo Sanguíneo MNSs , Masculino , Fosfoglucomutase , Vigilância da População , Sistema do Grupo Sanguíneo Rh-Hr , Albumina Sérica , VenezuelaRESUMO
In this paper we present the results of blood group typings for a total of 33 villages distributed among five South American Indian tribes--Yanomama (21 villages), Makiritare (eight villages), Macushi (two villages), Piaroa (one village), and Wapishana (one village). These new results for the Yanomama and Makiritare tribes have been combined with those previously reported to allow a better appreciation of the distribution of allelic frequencies in the tribes. The relationship of the Yanomama to other South American Indian tribes is investigated using data on six polymorphic loci (Rh, MNS, Fy, Jk, Di, Hp). By use of four genetic measures (two of genetic relationship and two of genetic diversity), we demonstrate that the Yanomama are genetically unique among a sample of 20 South American tribes. In addition, the Yanomama show somewhat less genetic diversity for the six loci analyzed than the average South American tribe. Taken together, these results indicate a rather long period of isolation for the population antecedent to the Yanomama--perhaps since the time of entry of man into the South American continent. The pattern of genetic relationships and genetic diversity for the 20 tribes is consistent with the hypothesis that evolution in South America proceeded by a process of fission-fusion leading to isolation of subpopulations with subsequent genetic differentiation as a consequence of population isolation. The uniqueness of the Yanomama appears to stem entirely from such a process, there being no evidence of any selective differential for the loci analyzed.