The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive genetic disease in which the molecular defect is unknown. In 15 families with WAS, seven restriction fragment length polymorphic loci from the X chromosome were used to map the disease locus. Of the eight intervals studied, the likelihood of the WAS gene lying between DXS7 (Xp11.3) and DXS14 (Xp11) was at least 128 times higher than th...

Inactivation of a suppressor gene by deletion of chromosome 9 is a candidate initiating event in bladder carcinogenesis. We have used 13 polymorphic markers spanning the length of chromosome 9 in order to map the region of deletion in human bladder carcinomas. In the majority of tumors loss of heterozygosity was found at all informative sites along the chromosome, indicating deletion of the ent...

Explorative eye movements specifically target some parts of a scene while ignoring others. Here, we investigate how local image structure--defined by spatial frequency contrast--and informative image content--defined by higher order image statistics-are weighted for the selection of fixation points. We measured eye movements of macaque monkeys freely viewing a set of natural and manipulated ima...

INTRODUCTION All eukaryotic genomes contain regions of simple repetitive DNA, called short tandem repeats (STR*) or microsatellites, which consist of tandem repeats of a small number of bases (1-3). The number of repeats at a STR locus can be highly variable among individuals, resulting in length polymorphisms that can be detected by relatively simple PCR-based assays. Thousands of these highly...

This study was carried out to evaluate the loss of heterozygosity (LOH) in the 8q12-q24.1 chromosomal region, containing RAD54B gene in breast cancer. Polymorphic markers D8S539 and D8S543 were used. For alleles frequency estimation 100 primary breast cancers were tested. DNA was isolated from paraffin-embedded tissues and their matched blood samples. Polymerase chain reaction amplified product...

The aim of this paper is to utilise the concept of ‘highly informative training data’ such that, using Markov chain Monte Carlo (MCMC) methods, one can apply Bayesian system identification to multi-degree-offreedom nonlinear systems with relatively little computational cost. Specifically, the Shannon entropy is used as a measure of information content such that, by analysing the information con...

This study reports the successful isolation of highly informative microsatellite marker sets for two marine serolid isopod species. For Serolis paradoxa (Fabricius, 1775), 13, and for Septemserolis septemcarinata (Miers, 1875), eight polymorphic microsatellite markers were isolated using the reporter genome enrichment protocol. The number of alleles per locus (N(A) ) and the observed heterozygo...

Bullous dystrophy, hereditary macular type (McKusick 302000), is an X-linked disorder and was originally described in a single kindred in the Netherlands by Mendes da Costa and Van der Valk in 1908. To determine the location of the bullous dystrophy gene, segregation studies were performed in this family and in a recently described Italian family. Using informative polymorphic markers, the gene...

We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM). We found complete linkage of XLMTM to all four informative Xq28 markers analysed, with GCP/RCP (Z = 3.876, theta = 0.00), with DXS15 (Z = 3.737, theta = 0.00), with DXS52 (Z = 2.709, theta = 0.00), a...