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At least 1,369 records · Page 76Linked to original sources
PubMed1991

Allelotype of renal cell carcinoma.

Several recent studies based on restriction fragment length polymorphism analysis have supported the concept that the accumulation of multiple genetic alterations converts a normal cell to a malignant cell. Activation of oncogenes and/or inactivation of tumor suppressor genes have been observed during tumor progression in colorectal cancer, lung cancer, and breast cancer. To investigate the possibility that multiple genes are altered during the progression of renal cell carcinoma, we have used restriction fragment length polymorphism markers throughout the genome to test for loss of heterozygosity in 38 renal cell carcinomas. Nearly 64% of the tumors had lost heterozygosity on the short arm of chromosome 3. We also observed loss of heterozygosity averaging about 30% at informative loci on six other chromosomal arms (chromosomes 5q, 6q, 10q, 11q, 17p, and 19p). These results lead us to suspect the existence of several tumor suppressor genes associated with carcinogenesis of renal cell carcinoma.

Carcinoma, Renal Cell↗
PubMed2006

Sjögren-Larsson syndrome: a case report and literature review.

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results of an enzymatic assay and genomic DNA testing in cultured skin fibroblasts confirmed a homozygous C237Y mutation. These findings support the rich diversity of mutations associated with this syndrome.

Biopsy↗
PubMed2006

Validation of a real-time RT-PCR assay for rapid and specific diagnosis of Classical Swine Fever virus.

Two new real-time RT-PCR kits developed by LSI (TaqVet CSF) and ADIAGENE (Adiavet CSF) obtained a manufacturing agreement in France during the past year. For that purpose, the Classical Swine Fever (CSF) National Reference Laboratory (NRL) planned a schedule of conditions to be fulfilled by commercial real-time RT-PCR assays. The producers were asked to introduce an internal control to check the RNA extraction efficacy. The different criteria assessed were: sensitivity, specificity, especially "pestivirus specificity", reproducibility and easy handling, using 187 different samples distributed in four different panels. These samples were either CSFV inactivated strains or organs collected from CSF experimental SPF infected pigs, or naturally infected wild boars. All these samples were previously tested for genome detection using an RT-nested PCR assay and for virus isolation on cell culture. The LSI TaqVet kit was used for the CSF surveillance of wild boars in an area known to be infected, during the winter of 2004-2005. This field evaluation was carried out on 4710 spleen samples. In summary, the new CSF real-time RT-PCR assays have a higher predictive value than the current diagnostic standard, Virus Isolation.

Animals↗
PubMed2004

Synthesis of cysteinyl-tRNACys by a prolyl-tRNA synthetase.

The question of how cysteinyl-tRNA(Cys) is synthesized in organisms that lack a canonical cysteinyl-tRNA synthetase (CysRS) is an important open question in understanding protein synthesis. The prolyl-tRNA synthetase (ProRS) of wide ranging organisms has the ability to mis-activate cysteine without editing. This raises the question of whether the mis-activated cysteine can be charged to tRNA(Cys) to synthesize the correctly matched cys-tRNA(Cys), which may serve as an option in organisms that lack the conventional CysRS. Despite intense searches, such an activity has not been found. Here we show that the ProRS of the radiation-resistant bacterium Deinococcus radiodurans has the ability to charge cysteine to tRNA(Cys) and to retain the cognate pair cys-tRNA(Cys) stably without editing. The cysteinylation by D. radiodurans ProRS is not the major route for synthesis of cys-tRNA(Cys), however, because the organism encodes the conventional CysRS. Nonetheless, the synthesis of cys-tRNA(Cys) in vitro is important and it is unlike previously documented mis-charging of Methanocaldococcus jannaschii ProRS, which synthesizes cys-tRNA(Pro) but not cys-tRNA(Cys). We suggest that the cysteinylation activity of D. radiodruans ProRS may, in the presence of additional factors, offer one option to organisms that lack the conventional CysRS to synthesize cysteinyl-tRNA(Cys) in vivo.

Amino Acids↗
PubMed1990

Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency.

Several mutations in the human lipoprotein lipase (LPL) gene have been shown to underlie LPL deficiency. These mutations occur in patients who are mainly of European descent, and comprise a single base transition causing a premature stop codon, four separate amino acid substitutions and two large gene rearrangements. Together they account for approximately 40% of the LPL alleles in a cohort of 50 patients whose DNA has been examined in this laboratory. We now report on a new mutation in exon 3 of the LPL gene from a South African subject of South-east Asian extraction. This mutation comprises a six base-pair insertion at the site of a single base deletion. The net insertion of five base-pairs at amino acid positions 102 to 103 causes a shift in the reading frame, generating 44 amino acid residues of random sequence and a premature stop codon within exon 4. This mutation is predicted to result in the synthesis of a markedly truncated protein and is the cause of the enzyme deficiency in our patient.

Adult↗
PubMed1989

Polio and rabies vaccines produced in continuous cell lines: a reality for Vero cell line.

The Vero cell line was applied to the production of Enhanced-Inactivated Polio Vaccine (E-IPV), Oral Polio Vaccine (OPV) and Rabies Vaccine, also called Purified Vero Rabies Vaccine (PVRV) for humans. The cell line was expanded through the cell bank systems. Using a microcarrier culture technique, a large-scale production combined with an efficient purification process was developed. An extensive study of purity and biological safety was applied to the cell line to validate several Manufacturer's Working Cell Banks. Special emphasis was laid on the absence of any virus in the cells or any trace of viral sequence included in the Vero cell genome. Sensitive tests were applied to check that residual cellular DNA was as low as possible per dose of vaccine. E-IPV was licensed in July 1982 and since 1983 more than 20 million doses have been inoculated into children, without any side-effects. The production capacity of this E-IPV is presently more than 60 million doses per year. For PVRV, the license was delivered in June 1985 and over 350,000 doses have been injected without any problem. For the OPV, 27 monovalent lots were produced, 9 lots for each serotype. The studies of RNA sequences in variable regions and viral proteins gave results similar to the OPV produced from primary monkey kidney cells. All the other tests, and especially the neurovirulence tests in live monkeys showed that the OPV produced in Vero cell lines was acceptable. Since the completion of clinical studies, the license has been pending. The quality of the Vero cell line, as produced and tested by the "Institut Mérieux", combined with the safety afforded by the virus purification, has helped to prevent potential problems.

Animals↗
PubMed1995

Mutations in the SLC3A1 transporter gene in cystinuria.

Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid-transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus heterogeneity. Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients. In this report we describe four additional cystinuria-associated mutations in this gene: a frameshift, a deletion, a transversion inducing a critical amino acid change, and a nonsense mutation. The latter stop codon was found in all of eight Ashkenazi Jewish carrier chromosomes examined. This report brings the number of disease-associated mutations in this gene to 10. We also assess the frequency of these mutations in our 17 cystinuria families.

Americas↗
PubMed1995

Analysis of differential gene expression in the kidney by differential cDNA screening, subtractive cloning, and mRNA differential display.

It is becoming increasingly evident that significant changes in gene expression occur during the course of disease progression in both genetic and nongenetic kidney diseases. Knowledge of the differentially expressed genes may yield information about the abnormal biochemical events that occur in the initiation and pathogenesis of these diseases. The purpose of this review is to provide an overview of some of the current approaches for identifying and analyzing differentially expressed genes. The power of these techniques lies in their their ability to detect differences in the levels of specific mRNAs in the diseased compared to the nondiseased kidney without prior knowledge of their identity. The three basic techniques considered are differential cDNA library screening, subtracted cDNA libraries, and PCR-based differential display. Emphasis is placed on cDNA library construction and differential screening. Also reviewed are the analysis of differentially expressed cDNAs by Southern and Northern blot hybridization, S1-protection, RT-PCR, DNA sequencing, and DNA sequence analysis.

Base Sequence↗
PubMed1994

Molecular medicine: a primer for clinicians--Part VI: Introduction to genetic testing.

Application of the tools of molecular biology to clinical medicine is most apparent than in the development of DNA-based diagnostic and predictive tests. Such tests allow direct examination of the DNA of individuals for the presence or absence of the causative or predisposing molecular defect for a disease or condition. In this and the next two papers, in our series, we will discuss various aspects of genetic testing. We will consider the different types of testing, their current and potential clinical applications and discuss some of the major ethical and legal issues that genetic testing poses.

Alleles↗
PubMed1994

[Cytogenetic analysis of the chromosome region containing the Drosophila radiosensitivity gene. II. The vitally important loci of the 44F-45C region of chromosome 2].

Genetic content of 44F2-3; 4505-6 region of chromosome 2 characterized by an increased portion of heterochromatin rearrangements in comparison with other radiation-induced mutations, was studied. Eighteen complementation groups of lethal and viability reducing mutations were identified in 14 consecutive subregions of 44F-3; 4505-6 region using deletion and complementation analysis. Four additional complementation groups were formed only by rearrangements of heterochromatin. Location of heterochromatic aberrations does not coincide with hot spots of intralocus mutagenesis. Effective lethal period of mutations in 44F2-3; 45C5-6 region were analyzed. Mutations in 5 loci are lethal at the embryonic stage, strict lethal mutations of other genes lead to death at the larval stage. Mutations specifically changing scale and form of certain thorax bristles were identified in haplosensitive Notopleural locus which was not characterized earlier. Phenotypes of individuals homozygous for nonstrictly lethal alleles of vital loci of the region 44F-45C were described.

Animals↗
PubMedDate not supplied

Partial genetic characterization of FIZ15 bacteriophage of Pseudomonas aeruginosa.

FIZ15 phage of Pseudomonas aeruginosa causes lysogenic conversion in PAO1 strain. Lysogen shows increased adhesion to human buccal epithelial cells, increased resistance to 75 percent human serum bactericidal effect, and streptomycin resistant. These phenotypes apparently are due to a phage-induced superficial change on its own bacterial receptor, which probably is the O-antigen. In order to begin FIZ15 characterization, nitrous acid-induced clear-plaque mutants were obtained. They belonged to three complementation groups and mapping by two factor crosses revealed that they were closely linked. In a search for phage mutants that do not cause lysogenic conversion, two streptomycin-sensitive mutants were obtained by ethyl methane sulphonate mutagenesis of PAO1 lysogenic for FIZ15 (PIZ15 strain). One mutant (con1) showed and adhesion value similar to that of PAO1 and the other (con2) had an adhesion twofold and 1.3 times greater than PAO1 and PIZ15, respectively. con1 did not show increased serum resistance, whereas con2 was as resistant as PIZ15. Phages were isolated from the streptomycin sensitive mutants and used to relisogenize PAO1 to obtain the con1d and con2d lysogens. Adhesion and serum sensitivity of con1d was identical to that of PAO1 but con2d behaves like PIZ15. FIZ15 phage was unable to adsorb to PIZ15, con2 and con2d. On the other hand, FIZ15 phage adsorbs well to con1 and con1d but not to PIZ15. These results suggest that con1 mutation lies on the phage chromosome and con2 on the bacterial one. Finally, adhesion of all lysogens and PAO1 was stimulated 2-3 times by KCl and this effect was suppressed by and oxidative phosphorylation uncoupler.

Bacterial Adhesion↗