Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout

Summary A family is described in which four affected males, spanning two generations, have hyperuricemia and gout accompanied by hematuria but are without severe neurologic involvement. The affected males were found to have markedly reduced levels of erythrocytic hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity; these were 5–12% with hypoxanthine and 0.5–3% with guanine as compared to controls. Erythrocytic adenine phosphoribosyltransferase (APRT) was approximately three-fold elevated in the affected individuals.The residual HGPRT activity in affected males enabled characterization of some of the properties of this mutation. The apparent Michaelis constants (km) for both hypoxanthine and guanine were essentially unchanged, whereas the km for PP-ribose-P was approximately 10–20-fold elevated for all four affected males. The enzyme was more sensitive to product inhibition by IMP and GMP than controls, and exhibited greater thermal lability at 65°C than found with control lysates.     

The Differential Susceptibility of Vetch (Vicia spp.) to Orobanche aegyptiaca: Anatomical Studies

Vetches (Vicia spp .) are important forage legumes in the MiddleEast and Mediterranean regions. Most vetches are highly susceptibleto the root holoparasites Orobanche aegyptiaca and O. crenata,suffering severe quality and yield losses. However, purple vetch(V. atropurpurea) has shown good resistance to Orobanche. Microscopicstudies were performed to reveal anatomical differences of host-parasiteinteractions between susceptible and resistant vetch. SusceptibleV. sativa‘Yovel’ and resistant V. atropupurea‘Popany’were grown in association with O. aegyptiaca seeds, on glassmicrofibre sheets in a polyethylene-bag system. Whole root observationsusing stereoscopic microscopy detected necrotic lesions surroundingthe attachments of Orobanche radicles on resistant vetch roots.Hand-cut sections examined under the light microscope revealedthat in both susceptible and resistant vetch genotypes the Orobancheseeds germinated, attached and penetrated the host root epidermisand cortex. A reddish-brown secretion was observed in the apoplastat the interface between the parasite haustorium and the hosttissues, including the cell walls of the resistant vetch xylemvessels. Fixed and embedded sections observed under the lightmicroscope showed that in the susceptible genotype the parasitehaustorium penetrated through the endodermis into the host vascularcylinder, successfully forming a continuum with host vascularvessels. However, in the resistant genotype, the parasite haustoriumwas blocked at the root endodermis layer. The blockage was coupledwith secretion of unidentified material, thus preventing theparasite from establishing. These findings indicate that mechanicaland possibly chemical barriers are responsible for the hostdefence mechanism(s) conferring resistance of V. atropurpureato O. aegyptiaca. Copyright 2000 Annals of Botany Company Broomrape, Vicia atropurpurea, Vicia sativa, parasitic plants, plant resistance, tissue sections.     

Identification and characterization of mutations in 'X' region of a hepatitis B virus carrier.

A defective form of Hepatitis B virus (HBV) was identified in an apparently healthy voluntary blood donor, who was positive for the presence of HBV by dot blot hybridization, but did not have any serological markers of HBV infection. Two regions, part of X and part of surface antigen genes, were amplified by polymerase chain reaction, cloned and sequenced by Sanger's dideoxy chain termination method. The base sequence analysis revealed that the HBV mutant belonged to ayw serotype and showed three point mutations, in the form of deletions at nucleotides number 1402, 1438 and 1450. Such mutations in the 'X' region, and their likely presence elsewhere, could explain altered antigenic expression.     

Surgical treatment of nasal obstruction secondary to craniofacial fibrous dysplasia

Craniofacial fibrous dysplasia, a skeletal disorder most often affecting the mandible or maxilla, can cause a variety of complications. Nasal obstruction secondary to this unusual disorder presents a diagnostic and therapeutic challenge. The nasal obstruction in this case is due to expansion of fibrous lesions in adjacent bones as well as direct involvement of the turbinates with fibrous dysplasia. We describe the surgical correction of nasal obstruction in this unique setting and present a brief update of this intriguing disorder.     

High levels of expression of full length human pro-alpha 2(V) collagen cDNA in pro-alpha 2(V)-deficient hamster cells

A full length cDNA encoding human pro-alpha 2(V) collagen was constructed. Partial sequencing of the cDNA and primer extension analysis of mRNA from fibroblasts found that pro-alpha 2(V) mRNA differs from the mRNAs of other fibrillar collagens in the increased length of its 5'-untranslated region. The pro-alpha 2(V) cDNA was placed downstream of the human cytomegalovirus immediate early promoter/regulatory sequences for expression studies in cultured Chinese hamster lung cells. These cells have been shown previously to synthesize large quantities of pro-alpha 1(V) homotrimers as their only collagenous product. Transfection resulted in a number of clonal cell lines that express human alpha 2(V) RNA at levels comparable to, and in some cases greater than, levels found in normal human skin fibroblasts. Pro-alpha 2(V) chains produced in the majority of clonal lines were of sufficient quantity to complex all available endogenous pro-alpha 1(V) chains. Chimeric heterotrimers, composed of hamster alpha 1(V) and human alpha 2(V) chains in a 2:1 ratio, were stable to pepsin digestion and were found predominantly associated with the cell layer. Surprisingly, pro-alpha 2(V) chains, in excess to pro-alpha 1(V) chains, were found in the extracellular matrix and, in much greater abundance, in media. These chains were pepsin sensitive, indicating that pro-alpha 2(V) chains can be secreted as nonstable homotrimers or as free chains.