A study of 707 cases of retinitis pigmentosa and choroideraemia presenting over 12 years were classified according to their modes of inheritance--439 autosomal recessive (62%), 193 autosomal dominant ...(27%), 75 X-linked (10.7%). The patients with autosomal recessive transmission included 58 Usher syndrome, 12 Laurence-Moon-Bardet-Biedl syndrome and 33 Leber's congenital amaurosis. Another 37 had an early onset with macular degeneration and 31 were of late onset with pericentral dystrophy. Forty two were offspring of consanguineous parents. Of 193 individuals (78 families) with autosomal dominant inheritance, 20% had night blindness from early childhood. With X-linked transmission, 33 males and 31 female carriers comprised the retinitis pigmentosa group and eight males and three carrier females, choroideraemia. Almost all this X-linked group were of British ancestry. Of patients originating from the Mediterranean area, 94% had autosomal recessive disease.
Critical mixtures of aqueous solutions of polymers can be separated into two or more immiscible phases. Particulate materials are distributed in such phase systems generally between one bulk phase ...and the interface between bulk phases. The distribution is described by a simple partition law and is quantitatively determined by temperature, interfacial tensions, the electromotic potential difference between phases and the nature of the particle surface. The effects on transfacial potential differences of varying polymer, NaCl and sodium phosphate concentrations in dextran/polyethylene glycol systems were studied: increase of polyethylene glycol concentration increased the potential; addition of up to 40 mM NaCl progressively reduced the potential to zero: very small (less than 10 mM) concentrations of sodium phosphate buffer increased the potential, but further increase caused a fall in potential, which was less marked than that caused by equivalent concentrations of NaCl. The partition properties of a variety of cells, native or modified by treatment with trypsin, neuraminidase or maleic anhydride, were studied. In systems containing greater than 40 mM NaCl no difference in partition patterns for modifications of each cell type was observed. In systems containing no NaCl the partition pattern was highly dependent on the nature of the modification. From the behaviour of such models, polymer-electrolyte phase systems suitable for study of cell surface modification involving change, or no change, in net surface have been identified.
This report describes the construction of a new yeast artificial chromosome (YAC) vector designed for gene transfer into mammalian cells. For ease of use, the two arms of the vector were cloned ...separately. The vector harbours the Neo and Hyg genes for dominant selection in mammalian cells, a putative human origin of replication, a synthetic matrix attachment region and two loxP sites (one on each arm). The cloning ability of the vector was demonstrated by successful propagation of the cDNA of the cystic fibrosis gene, CFTR, as a YAC in
Saccharomyces cerevisiae. A YAC containing the entire CFTR gene was also constructed by retrofitting the two arms of a pre-existing clone (37AB12) with the two arms of the novel vector. Both the cDNA and entire gene containing YACs were circularized in yeast by inducible expression of the Cre recombinase. Recombination occurred very specifically at the loxP sequences present on the two arms of the YAC. Applications of the vector to gene transfer are discussed.
ABSTRACT
The practice of abandoning all but the most accurate among a set of alternative forecasting methods is shown to result in the loss of potentially useful information. The particular case of ...two forecasts is considered in detail. It is demonstrated practically that the inclusion of even a relatively poor forecasting method can enhance a superior one significantly.
The nasal bioavailability of fluorescein isothiocyanate-dextran (FITC-dextran) (M sub(w) = 4300) encapsulated in non-mucoadhesive and mucoadhesive microspheres in New Zealand White rabbits was ...investigated. FITC-dextran was administered nasally encapsulated in carbopol 934P, chitosan and lactose microspheres and the bioavailability compared to intravenous administration of FITC-dextran solution. Administration of FITC-dextran as carbopol microspheres produced a significantly greater bioavailability (33%) than after administration as chitosan (13%) and non-mucoadhesive rapidly dissolving control lactose microspheres (9%). The FITC-dextran terminal plasma half-lives after carbopol 934P and chitosan microsphere administration were significantly longer than after intravenous administration of FITC-dextran. The FITC-dextran terminal plasma half-life after carbopol 934P microspheres administration was significantly longer than after lactose microsphere administration. This data suggested that the increase in FITC-dextran bioavailability after carbopol 934P microspheres administration was due to increased residence at the absorptive site via mucoadhesion and reduced mucociliary clearance. A change in mucosal permeability could not however be discounted especially for the chitosan microspheres.
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