Volume 43 (1997) No. 5
Volume 43 (1997) No. 5
Aricles
Molecular Basis of the Altered gag p19 Protein (MA) of the Transformation-Defective Mutant of Rous Sarcoma Virus, tdPH2010
H. HARA, T. TANABE*, A. KAJI..................................175
Department of Microbiology, University of Pennsylvania School of Medicine, Philadelphia, USA
Corresponding author: Hiroto Hara, University of Pennsylvania School of Medicine, Department of Microbiology, Philadelphia, PA 19104, USA. Tel. 215-898-6524, 898-8828, Fax 215-573-2221.
*Present address: Microbiology and Cell Biology Research Division, the Green Cross Corp. Osaka, Osaka 536, Japan.
Abstract
Mapping of Selective Rat Chromosome Regions Using Mouse Microsatellite Markers
A. Y. DENG, J. P. RAPP........................................183
Department of Physiology and Molecular Medicine, Medical College of Ohio, Toledo, OH, USA
Corresponding Author: Alan Y. Deng, Department of Physiology and Molecular Medicine, Health Science Bldg., Room 320, Medical College of Ohio, 3000 Arlington Avenue, PO Box 10008 Toledo, OH 43699-0008, USA. Tel. (419) 381-4026, Fax (419) 381-3124, e-mail adeng@vortex.mco.edu
Abstract
The Effect of an Antiphlogistic Incorporated in Liposomes on Experimentally Induced Inflammation
J. SCHRAMLOVÁ*, K. BLAŽEK*, B. OTOVÁ**, M. BARTÁÈKOVÁ***, D. HULÍNSKÁ*.....................................................195
*National Institute of Public Health, Prague, Czech Republic
**Department of Biology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
***Léèiva, Inc., Dolní Mìchulupy, Czech Republic
Corresponding author: Jana Schramlová, National Institute of Public Health, Šrobárova 48, 100 42 Prague 10, Czech Republic.
Abstract
DNA Diagnosis and Clinical Manifestations of Autosomal Dominant Polycystic Kidney Disease
M. MERTA*, J. ŠTEKROVÁ**, J. ŽIDOVSKÁ***, M. VORŠILKOVÁ+, J. WALTEROVÁ+, J. KAPRAS**, M. ALÁNOVÁ++, D. RAŠKOVÁ++, R. GAILLYOVÁ+++, E. ARCHMANOVÁ#, R. RYŠAVÁ*......................201
*1st Medical Department, 1st Medical Faculty, Charles University, Prague, Czech Republic
**Institute of Biology, 1st Medical Faculty, Charles University, Prague, Czech Republic
***Department of Clinical Genetics, 1st Medical Faculty, Charles University, Prague, Czech Republic
+1st Medical Department, 1st Medical Faculty, Charles University, Prague, Czech Republic
++Department of Clinical Genetics, 2nd Medical Faculty, Charles University, Prague, Czech Republic
+++Department of Clinical Genetics, Faculty Pediatric Hospital of J. G. Mendel, Brno, Czech Republic
#Center for Specialized Medical Services for Children, Brno, Czech Republic
Corresponding author: Miroslav Merta, 1st Medical Department, 1st Medical Faculty, Charles University, U nemocnice 2, 128 08 Prague 2, Czech Republic
Abstract
Identification of APC Exon 15 Mutations in Families Suspected of Familial Adenomatous Polyposis (FAP)
T. KIRCHHOFF*, V. ZAJAC*, P. KRIŽAN**, V. REPISKÁ***, V.ŠTEVURKOVÁ*, W. FRIEDL+.....................................205
*Cancer Research Institute, Slovak Academy of Sciences, Bratislava, Slovakia
**National Cancer Institute, Bratislava, Slovakia
***Institute of Medical Biology, School of Medicine, Comenius University, Bratislava, Slovakia +Institute for Human Genetics, University of Bonn, Bonn, Germany
Corresponding author: Tomáš Kirchhoff, Department of Cancer Genetics, Cancer Research Institute, Slovak Academy of Sciences, 812 32 Bratislava, Slovak Republic.
Abstract
Abstracts
Molecular Basis of the Altered gag p19 Protein (MA) of the Transformation-Defective Mutant of Rous Sarcoma Virus, tdPH2010
H. HARA, T. TANABE*, A. KAJI
The transformation-defective mutant of Rous sarcoma virus (RSV), tdPH2010, has a gag p19 (matrix; MA) protein which migrates on SDS-polyacrylamide gels faster than that of the parental (tsNY68) as well as other wild-type strains of RSV. To study the molecular basis of this altered migration pattern and its biological significance, the nucleotide sequence of the p19 region of tdPH2010 was determined. Comparison of the nucleotide sequence of tdPH2010 with that of the Schmidt-Ruppin A strain of RSV revealed a point mutation at nucleotide 755 (G to A), resulting in an amino-acid substitution at residue 126 of p19 (Glu to Lys). Acidic-methanol esterification of free carboxyl groups suppressed the difference in electrophoretic mobility of p19 between tdPH2010 and the wild-type virus. Recombinant virus constructs having the mutated gag region of tdPH2010 produced a p19 with the same electrophoretic mobility as the p19 of tdPH2010. We concluded that the point mutation caused the altered electrophoretic behavior of p19 of tdPH2010. The mutation had no effect on the cell growth.
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Mapping of Selective Rat Chromosome Regions Using Mouse Microsatellite Markers
A. Y. DENG, J. P. RAPP
Four hundred eighty mouse microsatellite markers distributed in discrete regions on five mouse chromosomes were screened for producing PCR products in the rat. Ninety-eight of these markers or 20% give distinctive PCR products. Among these ninety-eight markers, twenty-three are polymorphic between the inbred hypertensive Dahl salt-sensitive (S) rat strain and several normotensive rat strains of interest. Fourteen of these polymorphic markers have been mapped to the homologous chromosome regions of the rat, and have further been utilized to localize quantitative trait loci (QTL) for blood pressure in the S rat.
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The Effect of an Antiphlogistic Incorporated in Liposomes on Experimentally Induced Inflammation
J. SCHRAMLOVÁ*, K. BLAŽEK*, B. OTOVÁ**, M. BARTÁÈKOVÁ***, D. HULÍNSKÁ*
The antiphlogistic Ibuprofen incorporated in liposomes caused a decrease of the inflammatory edema induced by Carrageenan in the distal part of the rat's hind leg after both the intramuscular and percutaneous administration. The antiphlogistic effect of free Ibuprofen in the cream was weaker. Intramuscular administration of empty liposomes slowed down in the initial stages the development of inflammation and slightly diminished the size of edema.
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DNA Diagnosis and Clinical Manifestations of Autosomal Dominant Polycystic Kidney Disease
M. MERTA*, J. ŠTEKROVÁ**, J. ŽIDOVSKÁ***, M. VORŠILKOVÁ+, J. WALTEROVÁ+, J. KAPRAS**, M. ALÁNOVÁ++, D. RAŠKOVÁ++, R. GAILLYOVÁ+++, E. ARCHMANOVÁ#, R. RYŠAVÁ*
At least 2 genes, detectable by DNA methods, encode autosomal dominant polycystic kidney disease (ADPKD), which remains the most frequent and serious hereditary renal disease. PKD1 gene, localized on chromosome 16, responds for the clinical course in the majority of ADPKD patients, whereas PKD2 gene, localized on chromosome 4, is responsible for less than 10-15% of cases, with presumed milder phenotypic manifestations. To start the clinical and genetic correlation in patients with different genotypes (PKD1 vs. PKD2) in the Czech population, a pilot group of 88 patients with ADPKD was analyzed. Families with PKD1 (n = 44) represented 95.6% and families with PKD2 (n = 2) 4.4 % of all families investigated (n = 46). Our clinical analysis, yet based only on a limited number of PKD2 subjects, does not definitely support the concept of a milder phenotype and prognosis in PKD2 versus PKD1 patients, in terms of mean age of diagnosis (29 vs. 29 years), mean age at onset of arterial hypertension (33 vs. 33 years), more favourable renal function or ultrasound findings.
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Identification of APC Exon 15 Mutations in Families Suspected of Familial Adenomatous Polyposis (FAP)
T. KIRCHHOFF*, V. ZAJAC*, P. KRIŽAN**, V. REPISKÁ***, V.ŠTEVURKOVÁ*, W. FRIEDL+
Patients with familial adenomatous polyposis coli (FAP) reveal numerous colorectal adenomas as well as benign and malignant extracolonic lesions. Adenomatous polyposis coli (APC) gene mutations are the crucial genetic defect in FAP. The APC mutation molecular analysis of 20 FAP families was performed using the novel and effective method of the heteroduplex analysis (HDA). All of these families were screened for mutations in APC exon 15. APC mutations were identified in 4 individuals of two families. These two families were also screened by the protein truncation test (PTT). The PTT results confirmed previous findings obtained by HDA. The results of molecular analysis were correlated with the clinical manifestations of extracolonic lesions and congenital hypertrophy of retinal pigment epithelium (CHRPE). Positive correlation of all clinical examinations and mutations of APC gene was observed in all 4 FAP patients.
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