ABSTRACT
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, Subject(s)
Chromosome Mapping
, Cognition Disorders/genetics
, Homeodomain Proteins/genetics
, Jacobsen Distal 11q Deletion Syndrome
, Mental Disorders/genetics
, Nerve Tissue Proteins/genetics
, Neurogranin/genetics
, Adolescent
, Adult
, Animals
, Child
, Chromosome Deletion
, Chromosomes, Human, Pair 11
, Female
, Humans
, Jacobsen Distal 11q Deletion Syndrome/genetics
, Jacobsen Distal 11q Deletion Syndrome/physiopathology
, Male
, Mice
, Microarray Analysis
, Prospective Studies
, Young Adult
ABSTRACT
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.
Subject(s)
Black People/genetics , Gene Frequency/genetics , Genetic Variation/genetics , Haplotypes/genetics , Immunoglobulin Gm Allotypes/genetics , Immunoglobulin Km Allotypes/genetics , Phylogeny , Africa South of the Sahara , Chi-Square Distribution , Ethnicity/genetics , Factor Analysis, Statistical , Gene Pool , Humans , Linguistics , PhenotypeABSTRACT
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.
