RESUMO
We performed a prospective analysis on 14 11q- patients to determine the relationship between the degree of cognitive impairment and relative deletion size. Seventeen measures of cognitive function were assessed. All nine patients with a deletion of at least 12.1 Mb had severe global cognitive impairment, with full-scale IQ <50, whereas all five patients with smaller deletions, Assuntos
Mapeamento Cromossômico
, Transtornos Cognitivos/genética
, Proteínas de Homeodomínio/genética
, Síndrome da Deleção Distal 11q de Jacobsen
, Transtornos Mentais/genética
, Proteínas do Tecido Nervoso/genética
, Neurogranina/genética
, Adolescente
, Adulto
, Animais
, Criança
, Deleção Cromossômica
, Cromossomos Humanos Par 11
, Feminino
, Humanos
, Síndrome da Deleção Distal 11q de Jacobsen/genética
, Síndrome da Deleção Distal 11q de Jacobsen/fisiopatologia
, Masculino
, Camundongos
, Análise em Microsséries
, Estudos Prospectivos
, Adulto Jovem
RESUMO
This study utilizes the GM/KM immunoglobulin allotype system to elucidate the phylogenetic relationships of sub-Saharan Africans. The importance of understanding the relatedness of these peoples stems from the sub-Saharan region being the possible birthplace of humans. Haplotype distributions were determined for 19 populations and compared using chi-square analysis. Published data of other sub-Saharan Africans and representative populations worldwide were also added for comparison. Genetic distances between populations were calculated based on haplotype frequencies, and genetic relationships were observed through principal components analysis. Data from the GM/KM system showed a genetic homogeneity of the Bantu populations, with some exceptions, supporting the possibility of a common origin of these peoples. The Malagasy appeared as a divergent population, most likely due to Southeast Asian/Austronesian admixture, as indicated by the presence of the GM*AF B haplotype. The Cape Coloured also showed a divergence, with their genetic structures containing Caucasoid and Khoisan contributions. Finally, the Mbuti Pygmies appeared genetically isolated and had the highest frequency of the GM*A B haplotype out of all studied populations.
Assuntos
População Negra/genética , Frequência do Gene/genética , Variação Genética/genética , Haplótipos/genética , Alótipos Gm de Imunoglobulina/genética , Alótipos Km de Imunoglobulina/genética , Filogenia , África Subsaariana , Distribuição de Qui-Quadrado , Etnicidade/genética , Análise Fatorial , Pool Gênico , Humanos , Linguística , FenótipoAssuntos
Fungos/fisiologia , Solanum tuberosum/metabolismo , Solanum tuberosum/microbiologia , Espectroscopia de Ressonância de Spin Eletrônica , Radicais Livres/metabolismo , Fusarium/fisiologia , Espectroscopia de Ressonância Magnética , Phytophthora/fisiologia , Doenças das Plantas , Raízes de PlantasRESUMO
A quantified maximum entropy method is applied to the optimisation of analytical information from EPR spectra of free radicals. Statistically meaningful errors are produced for the positions and intensities of all spectral peaks and considerable improvements in sensitivity compared with conventional spectral enhancement procedures are obtained with measurements of the intensities of spectra of known radicals.
