Mutation-induced activation of splice sites in intronic repetitive sequences has contributed significantly to the evolution of exon-intron structure and genetic disease. Such events have been associated with mutations within transposable elements, most frequently in mutation hot-spots of Alus. Here, we report a case of Alu exonization resulting from a 367-nt genomic COL4A5 deletion that did not...

Characteristics of various CMOS and NMOS circuit techniques are described, along with the shortcomings of each. Then a new circuit ty#e, the CMOS domino circuit, will be described. This involves tbe connection of dynamic CMOS gates in such a way that a single clock edge can be used to turn on all gates in the circuit at once. As a result, complex clocking schemes are not needed and the full inh...

A comprehensive analysis of two Alu Y lineage subfamilies was undertaken to assess Alu-associated genomic diversity and identify new Alu insertion polymorphisms for the study of human population genetics. Recently integrated Alu elements (283) from the Yg6 and Yi6 subfamilies were analyzed by polymerase chain reaction (PCR), and 25 of the loci analyzed were polymorphic for insertion presence/ab...

The human short interspersed repeated element (SINE), Alu, amplifies through a poorly understood RNA-mediated mechanism, termed retroposition. There are over one million copies of Alu per haploid human genome. The copies show some internal variations in sequence and are very heterogeneous in chromosomal environment. However, very few Alu elements actively amplify. The amplification rate has dec...

Alu is a predominant short interspersed element (SINE) family in the human genome and consists of two monomer units connected by an A-rich linker. At present, dimeric Alu elements are active in humans, but Alu monomers are present as fossilized sequences. A comparative genome analysis of human and chimpanzee genomes revealed eight recent insertions of Alu monomers. One of them was a retroposed ...

We describe an integrated approach to largescale physical mapping using an Alu-PCR hybridization screening strategy in conjunction with direct PCR-based screening to construct a continuous yeast artificial chromosome map covering >20 mb in human chromosome 3, bands pl4-p21, composed of 205 loci, connected by 480 yeast artificial chromosomes, with average interlocus distance of 100 kb. We observ...

Background and Aims: This research aimed to study a possible link between endometriosis and polymorphism of the progesterone receptor gene. Materials and Methods: The control group consisted of 86 women without endometriosis and the case group comprised 86 patients with a diagnosis of endometriosis by laparoscopy. Genotypes for Alu insertion polymorphisms (A1/A1, A1/A2 and A2/A2) were descri...

Alu elements are the most active and predominant type of short interspersed elements (SINEs) in the human genome. Recently inserted polymorphic (for presence/absence) Alu elements contribute to genome diversity among different human populations, and they are useful genetic markers for population genetic studies. The objective of this study is to identify polymorphic Alu insertions through an in...