Evaluation of reference-based two-color methods for measurement of gene expression ratios using spotted cDNA microarrays.

Background: Spotted cDNA microarrays generally employ co-hybridization of fluorescently-labeled RNA targets to produce gene expression ratios for subsequent analysis. Direct comparison of two RNA samples in the same microarray provides the highest level of accuracy; however, due to the number of combinatorial pair-wise comparisons, the direct method is impractical for studies including large number of individual samples (e.g.

Assessment of Azorean ancestry by Alu insertion polymorphisms.

Knowledge of population ancestry from genetic markers is essential, for example, to understand the history of human migration and to carry out admixture and association studies. Here we assess the genome ancestry of the Azorean population through analysis of six Alu polymorphic sites (TPA-25, ACE, APO, B65, PV92, and D1) in 65 Azoreans and 30 Portuguese unrelated blood donors and compare data for the Y-chromosome and mtDNA. Allele frequencies were calculated by direct counting.

Geography of surnames in the Azores: specificity and spatial distribution analysis.

In order to obtain a better understanding of the genetic structure of the Azorean population, a specificity and spatial distribution analysis was performed, based on 2,454 different surnames present in the Azorean telephone directory (2002). We considered as specific surnames those with an absolute frequency ratio equal to or higher than 50%. The results revealed 51 specific surnames in the whole archipelago.

A cis element in the recombination activating gene locus regulates gene expression by counteracting a distant silencer.

We have identified a silencer and an antisilencing element that interact at a distance of 85 kilobases to regulate expression of the recombination activating genes Rag1 and Rag2 in thymocytes. Transgenic experiments showed that Rag promoter-proximal cis elements directed tissue-specific expression and that a Runx-dependent intergenic silencer suppressed expression in developing T cells. Deletion of the antisilencing element from the genomic Rag locus unmasked the intergenic silencer and abrogated Rag expression in developing CD4(+)CD8(+) T cells.