Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. So far, 41 single-base-pair (bp) substitutions, one two-bp substitution, and four deletions ranging from 3 to 42 bp have been identified in this gene. These mutations do not appear to be significantly clustered in a specific part of the protein, but occur in all three major domains, namely the intradiscal, transmembrane, and cytoplasmic regions. Different mutations appear to cause differences in the severity of the disease, though there is considerable variability in severity even within the same family, at least in certain of these mutations. Identification of all the mutations involved in rhodopsin-RP should allow accurate and early detection of affected individuals, informed genetic counselling, as well as furthering our knowledge of the disease process involved.     

Improved strained HEMT characteristics using double-heterojunctionIn0.65Ga0.35As/In0.52Al0.48As design

The DC and microwave properties of strained In_0.65Ga _0.35As/In₀₅₂Al_0.48As HEMTs (high electron-mobility transistors) with double-heterojunction design are presented. The high sheet carrier density and good carrier confinement give rise to excellent device performance with very low output conductance. For 1×150-μm² long-gate HEMTs, the measured cutoff frequency f_T and maximum frequency of oscillation f_max are as high as 37 and 66 GHz, respectively     

cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4)

Defects in the Drosophila norpA (no receptor potential A) gene encoding a phosphoinositide-specific phospholipase C (PLC) block invertebrate phototransduction and lead to retinal degeneration. The mammalian homolog, PLCB4, is expressed in rat brain, bovine cerebellum, and the bovine retina in several splice variants. To determine a possible role of PLCB4 gene defects in human disease, we isolated several overlapping cDNA clones from a human retina library. The composite cDNA sequence predicts a human PLC beta 4 polypeptide of 1022 amino acid residues (MW 117,000). This PLC beta 4 variant lacks a 165-amino-acid N-terminal domain characteristic for the rat brain isoforms, but has a distinct putative exon 1 unique for human and bovine retina isoforms. A PLC beta 4 monospecific antibody detected a major (130 kDa) and a minor (160 kDa) isoform in retina homogenates. Somatic cell hybrids and deletion panels were used to localize the PCLB4 gene to the short arm of chromosome 20. The gene was further sublocalized to 20p12 by fluorescence in situ hybridization.     

Prediction of venturi scrubber efficiency used in an updraft gasifier cleaning train

The performance of a venturi scrubber in the removal of tar from gas in updraft gasification has been studied. The gasifier has been operated with a husk feed rate of 1.6 × 10^?4 kg/s. The venturi scrubber has been operated at a superficial gas velocity of 56.4 m/s at the throat. A wide variety of scrubbing liquids having surface tensions ranging from 0.026 to 0.072 N/m have been used. The Q_g/Q_l, has been varied in the range of 1000–8000. The tar separation efficiency η has been found to vary from 51 to 98.5%. A mathematical model, assuming steady-state operation, has been developed considering very high pseudosolubility of tar in the scrubbing liquids. The predicted values of η have been compared with experimental results. The model satisfactorily explains the tar removal efficiency of the venturi for Q_g/Q_l values ranging from 4000 to 8000 for all scrubbing liquids. The following correlation has been developed for predicting venturi scrubber efficiency: .     

The initiation of crack growth in linear polyethylene

The initiation of crack growth was observed in single edge notched tensile specimens under plane strain conditions. The shape of the deformation zone varied from being balloon-like above 12 MPa and nearly planar below but neither shape conformed to that predicted by the conventional shear type yield criteria. The initial damaged zone grew at a constant velocity with a stress dependence ofV=V ₀ ⁿ . The spectrum of damage morphologies that preceed crack growth consists of a leading edge of crack-like pores followed by a region of increasing fibrillation which is terminated by a region of increasing fibril fracture.     

Cement mortar impregnated with poly(methyl methacrylate-co-styrene)

Polymer-impregnated mortars were prepared by copolymerization of a monomer mixture of methyl methacrylate and styrene in the ratios of 13:87 and 40:60 using Co-60 gamma radiation. The copolymerization characteristics viz. the rate of polymerization, the extent of monomer loss, polymer loading, etc., were studied. The nature and molecular weight of the extractable polymer from the composite were determined. The flexural strength of the copolymer-impregnated composites was found to be better than that of the composites impregnated with component homopolymers.     

Study of polyaniline polyacrylamide composites by positron annihilation technique

Polyaniline doped with nonoxidizing Bronsted acids is recognized as a conducting material, as its electrical conductivity changes with percentage of doping. In the present work, different percentages of doped polyaniline were blended with polyacrylamide and their electrical conductivities as well as the positron annihilation lifetimes were measured. Analysis of data yielded three lifetime components. It was observed that the value of the short lifetime component remained constant for doping concentration, whereas that of the intermediate component τ₂ decreased. The relative intensity pertaining to τ₂, however, increased with the increase in doped PANI concentration. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 89: 930–933, 2003     

Preparation and characterization of low-halogen and nonhalgoen fire-resistant low-smoke (FRLS) cable sheathing compound from blends of functionalized polyolefins and PVC

An attempt is made to develop a novel series of cable sheathing compounds with variation in chlorine content and sufficient fire retardance and unique low-smoke characteristics. These are prepared by blending PVC and functionalized polyolefins in different compositions. PE and EPDM have been functionalized by grafting dibutyl maleate (DBM) using DCP as initiator. FRLS compounds made from PVC-functionalized polyolefin blends possess the special characteristics of low-smoke, low-acid-gas generation, increased fire retardance, and improved volume resistivity, which are much better in comparison with a typical PVC sheathing compound. Thermoplastic elastomer (TPE) based nonhalogen FRLS compounds are also reported. The mechanisms for grafting, polymer-polymer and polymer-filler interactions have been presented.