Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21

The human PWP2 gene is the human homologue of the yeast periodic tryptophan protein 2 (PWP2) gene and is a member of the gene family that contains tryptophan-aspartate (WD) repeats. Genomic sequencing revealed that the human PWP2 gene consists of 21 exons spanning approximately 24 kb and locates just between the two genes EHOC-1 and KNP-I and distal to a NotI site of LJ104 (D21S1460) on chromosome 21q22.3. Analysis of the 5'-flanking DNA sequence revealed that the upstream region of the PWP2 gene is associated with a CpG island containing the NotI site of LJ104. Since PWP2 is considered to be a candidate for genetic disorders mapped in the 21q22.3 region, the information including nucleotide sequence and genomic organization of the PWP2 gene should be invaluable for the mutation analysis of the corresponding genetic disorders.     

Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients

AIM: To confirm the mutation of the keratoepithelin gene in patients with a severe form of superficial juvenile granular corneal dystrophy (GCD). METHODS: Five Japanese probands in whom GCD was diagnosed after histopathological examination and who developed severe manifestations of GCD in their first decade of life were investigated. Other affected family members of two probands were also examined. All probands were the offspring of consanguineous parents. DNA was extracted from their peripheral blood leucocytes and mutational analysis of the gene was performed by the polymerase chain reaction and direct sequencing. RESULTS: Four of the five probands underwent their first keratectomy or keratoplasty in their teens and subsequently underwent a second or third keratoplasty. Each proband had a homozygous G-->A transition at codon 124, replacing Arg-->His, of the keratoepithelin gene. Their moderately affected family members were heterozygous for the mutation. CONCLUSIONS: This finding suggests that the severity of the corneal phenotype depends on the dose effect of the mutant gene.     

Shear behaviour of methane hydrate bearing sand with various particle characteristics and fines

It is recognized that methane hydrate (hereafter referred to as MH) is trapped in the sand sediments of alternating sand and mud layers in the turbidite of the Nankai Trough, Japan. The existence of fines within the marine sediment significantly affects its mechanical and physical properties. A series of plane strain compression tests at high pressures were performed in order to investigate the effect of the particle characteristics and fines content of the host sands on the shear behaviour of MH bearing sands. MH bearing sands were artificially produced using rounded glass beads and three other silica sands with different fines contents. A high-pressure low-temperature testing apparatus was equipped with a camera to observe deformation of the specimens during shearing and particle image velocimetry analysis was conducted on pictures taken during the experiments. The experimental results show that strength enhancement due to the bonding effect in MH bearing sand increases with the level of fines content. Values for both the cohesion and friction angle of MH bearing sand composed of Toyoura sand increased along with increasing MH saturation. However, in the case of MH bearing glass beads, only the value for cohesion increased when MH was formed. The maximum shear strain of MH bearing glass beads was mostly concentrated near the shear band. While the maximum shear strains of the three other MH bearing sands were concentrated within the shear band, some was widely distributed in the region outside of the shear band. A rise in the degree of MH saturation increased the angle and narrowed the width of the shear band, regardless of the fines content.     

Premixed flame propagating into a narrow channel at a high speed, part 1: Flame behaviors in the channel

This paper deals with the transient behavior of a flame flowing into a narrow channel from a chamber filled with a propane---air mixture.

The flame was observed through direct or schlieren high speed photography, and at the same time the arrival at the entrance and exit of the channel were detected by ion gaps. From the experimental results it was found that in some cases the flame extinguished or hesitated in the channel before passing through. These behaviors were dependent on the equivalence ratio of the mixture, the channel width, and the flame inflow velocity.

Flame standstill in the channel is assumed to be caused by continuous quenching of hot reacting gas due to turbulent mixing with cold unburned gas at the contraction region established near the entrance of the channel. For any specific mixture, when the channel entrance is rounded or the inflow velocity is low, the minimum width of the channel for which a flame will run through without any retardation becomes smaller compared with the case of a sharp-edged entrance or a high inflow velocity. On the contrary, the minimum width of the channel for which a flame cannot pass through does not depend on the corner roundness of the channel entrance or the inflow gas velocity.     

Performance of residential fuel-cell-combined heat and power systems for various household types in Japan

A residential fuel-cell-combined heat and power (FC-CHP) system is considered a promising low-carbon technology that can reduce residential energy consumption and thus, achieve Japan's greenhouse gas (GHG) emissions reduction targets. However, to consider future directions for the systems' research and development, it is critical to understand the relationships between the performances of FC-CHP systems and residential energy demand profiles, which vary by household characteristic. This study evaluates the effects of applying city gas-fueled FC-CHP systems to Japanese households with different attributes. We compare total costs and GHG emissions for residential energy use between the FC-CHP systems and a conventional system. The economic performance results suggest that the basic PEMFC-CHP systems have an economic advantage only for four-person families with teenage children and further development efforts for low-output FC-CHP systems are required to enable various households save energy costs. The environmental evaluation results show that SOFC-CHP systems can drastically reduce GHG emissions from particularly small-sized households.     

Development of high-pressure low-temperature plane strain testing apparatus for methane hydrate-bearing sand

A high-pressure low-temperature plane strain testing apparatus was developed for visualizing the deformation of methane hydrate-bearing sand due to methane hydrate production. Using this testing apparatus, plane strain compression tests were performed on pure Toyoura sand and methane hydrate-bearing sand with localized deformation measurements. From the results, it was observed that the methane hydrate-free specimens, despite their relatively high density, showed changes in compressive volume. Marked increases in the initial stiffness and strength of the methane hydrate-bearing sand were observed (methane hydrate saturation of S_MH=60%). Moreover, the volumetric strain changed from compressive to dilative. For the specimens with methane hydrate, a dilative behavior above S_MH=0% was observed. An image analysis showed that the shear bands of the methane hydrate-bearing sand were thinner and steeper than those of the host sand. In addition, the dilative volumetric strain in the shear band increased markedly when methane hydrate existed in the pore spaces.