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At least 1,099 records · Page 61Linked to original sources
PubMed2001

Biosensors as new analytical tool for detection of Genetically Modified Organisms (GMOs).

Three different biosensors for detection of Genetically Modified Organisms (GMOs) are presented. The sensing principle is based on the affinity interaction between nucleic acids: the probe is immobilised on the sensor surface and the target analyte is free in solution. The immobilised probes are specific for most inserted sequences in GMOs: the promoter P35S and the terminator TNOS. Electrochemical methods with screen-printed electrodes, piezoelectric and optical (SPR) transduction principles were applied.

Biosensing Techniques↗
PubMed2002

Genetic analysis--a diagnostic tool for primary hyperoxaluria type I.

Primary hyperoxaluria type I is an autosomal recessive metabolic disease in which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of disease, ranging from renal failure in infancy to mere renal stones in late adulthood. The diagnosis may be suspected when clinical signs and increased urinary oxalate and glycolate excretion present, and is confirmed by the measurement of decreased alanine:glyoxylate aminotransferase activity in a liver sample. The enzymatic assay is not readily available to pediatric nephrologists in many parts of the world. We describe three families from Croatia in whom the diagnosis of primary hyperoxaluria was solely based on clinical findings that included nephrolithiasis and nephrocalcinosis accompanied by increased urinary oxalates and glycolate excretion, as enzymatic assays of liver samples could not be performed. Mutation analysis of the AGXT gene encoding the defective enzyme confirmed the diagnosis, revealing three alleles carrying the C156ins mutation and two the G630A mutation. Screening first-degree relatives for the relevant mutation disclosed an asymptomatic affected sibling. Mutation analysis of the AGXT gene is a non-invasive and accurate tool for the diagnosis of type I primary hyperoxaluria that may replace enzymatic assays of liver biopsies.

Adult↗
PubMed1996

Polymorphisms in the gene for the human B2-bradykinin receptor. New tools in assessing a genetic risk for bradykinin-associated diseases.

The B2-bradykinin receptor gene has been proposed as one of the candidate genes involved in the complex genetic underpinnings of common chronic disorders such as hypertension, ischemic heart disease or allergic asthma. Suitable genetic markers are needed to study these hypotheses. Therefore, it was our aim to identify polymorphic sites in the B2-receptor gene. Up to now, we characterized four polymorphisms: one in the promoter region and three other ones in each of the exons. Possible biological consequences are delineated and preliminary results of allele specific different biological action are shown.

Alleles↗
PubMed2006

EmsB, a tandem repeated multi-loci microsatellite, new tool to investigate the genetic diversity of Echinococcus multilocularis.

In order to explore the genetic diversity within Echinococcus multilocularis (E. multilocularis), the cestode responsible for the alveolar echinococcosis (AE) in humans, a microsatellite, composed of (CA) and (GA) repeats and designated EmsB, was isolated and characterized in view of its nature and potential field application. PCR-amplification with specific primers exhibited a high degree of size polymorphism between E. multilocularis and Echinococcus granulosus sheep (G1) and camel (G6) strains. Fluorescent-PCR was subsequently performed on a panel of E. multilocularis isolates to assess intra-species polymorphism level. EmsB provided a multi-peak profile, characterized by tandemly repeated microsatellite sequences in the E. multilocularis genome. This "repetition of repeats" feature provided to EmsB a high discriminatory power in that eight clusters, supported by bootstrap p-values larger than 95%, could be defined among the tested E. multilocularis samples. We were able to differentiate not only the Alaskan from the European samples, but also to detect different European isolate clusters. In total, 25 genotypes were defined within 37 E. multilocularis samples. Despite its complexity, this tandem repeated multi-loci microsatellite possesses the three important features for a molecular marker, i.e. sensitivity, repetitiveness and discriminatory power. It will permit assessing the genetic polymorphism of E. multilocularis and to investigate its spatial distribution in detail.

Animals↗
PubMed1998

Microplate-array diagonal-gel electrophoresis (MADGE) and melt-MADGE: tools for molecular-genetic epidemiology.

Microplate-array diagonal-gel electrophoresis (MADGE) was invented for molecular-genetic epidemiological studies. It combines direct compatibility with microplates, convenient polyacrylamide-gel electrophoresis and economy of time and reagents at minimal capital cost, and enables one user to run up to several-thousand gel lanes per day for the direct assay of single-base variations. Melt-MADGE adds temporal-thermal-ramp apparatus to achieve similar throughput for de novo mutation scanning.

Electrophoresis↗
PubMed2001

AFLP fingerprinting as a tool to study the genetic diversity of Rhizobium galegae isolated from Galega orientalis and Galega officinalis.

AFLP fingerprints of Rhizobium galegae strains that infect Galega orientalis and Galega officinalis obtained from different geographical sources, and of taxonomically diverse rhizobia representing the recognized species, were generated. Comparisons of the fingerprints from fluorescent labeled AFLP products using capillary electrophoresis on ABI prism 310, slab gel electrophoresis on ABI prism 377 genetic analyzers and silver staining were in good agreement. All methods delineated the G. orientalis strains from G. officinalis strains, the G. orientalis strains formed a tight cluster whereas the G. officinalis strains seem to show a greater level of genetic diversity. Comparison of fluorescent AFLP with other detection methods revealed that fluorescent labeling is more sensitive and practical, in addition, the deleterious effect of radioactivity associated with 32P-labeling, the delicate process of blotting polyacrylamide gels or the tedious procedure of silver staining can be avoided. The automated system facilitated a large number of runs at a time and the subsequent analysis of the data by generating exportable raw data. The congruency of the experiments was analyzed using the Bionumerics software.

DNA Fingerprinting↗
PubMed1998

Newborn and adult recombinant inbred strains: a tool to search for genetic determinants of target organ damage in hypertension.

It has been proposed that one of the primary events in the development of essential hypertension is a growth-related process initiated as early as during fetal development. Differences in kidney size have been observed between most rat models of hypertension and their respective controls. In this study, we analyzed relative kidney size (kidney weight/body wt) in a set of rat recombinant inbred strains (RIS) (N = 27) and their progenitors, the spontaneously hypertensive rat strain (SHR/Ola) and Brown Norway congenic strain (BN.1x), at two different ages, at birth and at 15 weeks. In the progenitors, the relative kidney weight was higher in the hypertensive than in the normotensive strain of both the newborn (P < 0.001) and adult (P < 0.001) animals. In the RIS, a significant correlation was found between the newborn and adult relative kidney weight (r = 0.49, P = 0.01), indicating that the two phenotypes share some of their genetic determinants. A total genome search of newborn and adult relative kidney weight was performed with a total of 453 genetic markers. These analyses revealed several suggestive quantitative trait loci (QTL), some of which were, indeed, significant for both newborn and adult relative kidney weight (such as, D3Mit9 on rat chromosome 3; r = -0.50, P < 0.01; r = -0.47, P < 0.01; respectively). Others, such as the locus on rat chromosome 1 (Rt6; r = -0.43, P < 0.05), were significant only for the adult relative kidney size. This QTL was found in close proximity to a region previously related to susceptibility to hypertensive renal disease in the fawn-hooded rat and, similarly to that study, its effect was found to be independent of blood pressure. Furthermore, a growth pattern of the kidneys after birth, evaluated as the difference between the newborn and adult relative kidney weight, was also subjected to total genome scan. Several suggestive QTL were identified. One of the most significant loci was found at the D1a marker on rat chromosome 17 (r = -0.51, P < 0.01), which was previously related to the determination of adult heart weight in the RIS. In conclusion, the current study demonstrates the usefulness of RIS in studies of hypertension-related phenotypes, some of which are abnormal before the development of high blood pressure. To better understand their role in the pathogenesis of hypertension, studies at different ages are needed, which are uniquely feasible in RIS.

Aging↗
PubMed2004

Data processing and exchange tools to facilitate chemical genetic screening processes.

Due to the development of chemical genomics, the screening of chemical libraries is used more and more by research laboratories to identify small molecule inhibitors or activators of cell functions. To facilitate the treatment and archiving of screening data, we developed a multiuser web application called Elisa Data Exchanger (EDE). The program is able to automatically identify which chemical compounds were tested. Several data exchange formats can be generated for visualization, printing, charting, or exporting to chemical analysis software. These data exchange functions allow for a comparison of results obtained from screening several targets in order to select the most specific compounds. EDE is freely available online at https://ibph.pharma.univ-montpl.fr/ede/ (login: evalede, password: loginede).

Combinatorial Chemistry Techniques↗
PubMed1998

The use of genetic instability as a clinical tool for cancer diagnosis.

Human tumors exhibit two fundamentally important characteristics, extensive genetic alteration and clonality. Although it is still unclear to what extent tumors have an elevated mutational burden as compared with normal tissue, their clonality results in their ready detection. Thus, assaying tissues for clonal alterations at frequently mutated microsatellite loci represents a viable approach to cancer diagnosis. The most remarkable extension of this concept is that not only can cancer cells be detected in biological samples, but tumor DNA can also be directly detected in the serum or plasma of patients with some forms of cancer. This recent finding is currently being explored but may represent an important contribution to future diagnostic strategies.

DNA, Neoplasm↗
PubMed2001

Molecular genetic analysis of virulence in Mannheimia (pasteurella) haemolytica.

Mannheimia haemolytica (previously known as Pasteurella haemolytica) is a weakly hemolytic, gram-negative coccobacillus that is an opportunistic pathogen of cattle, sheep and other ruminants. In stressed, immunocompromised animals, the organism causes a fibrinous, necrotic pneumonia, commonly called "shipping fever". In the United States, economic losses due to shipping fever pneumonia surpass the combined cost of all other diseases of cattle. M. haemolytica, which is a member of the family Pasteurelleaceae, includes twelve serotypes (A1, A2, A5-A9, A12-14, A16 and A17) based on capsular antigen typing. Worldwide, serotypes A1 and A2 predominate, though all serotypes can cause disease. Serotype A1 causes pasteurellosis in cattle and has been the subject extensive study, while serotype A2 causes disease in sheep and is less-well characterized. Potential virulence factors of M. haemolytica have been identified and characterized by gene cloning and DNA sequence analysis. These factors include a ruminant-specific leukotoxin, an anti-phagocytic capsule, lipopolysaccharide, iron-regulated outer membrane proteins, lipoproteins, a sialoglycoprotease, a neuraminidase and two potential immunoglobulin proteases. Unlike the well-characterized leukotoxin, little is known about the expression of these other virulence factors. Attempts to dissect the mechanisms of M. haemolytica pathogenesis have been hindered by the lack of a robust genetic system for mutation of the organism, though new tools for genetic manipulation of M. haemolytica have been developed. Expression plasmids and operon fusion plasmids have been created and a series of antibiotic resistance cassettes useful for site-specific recombination have been constructed. It is anticipated that use of these tools for gene expression and mutagenesis, in combination with the soon to be released genomic sequence of a serotype A1 organism, will aid in understanding the molecular mechanisms of pathogenesis of M. haemolytica and will help to drive development of new vaccines to prevent shipping fever.

Animals↗
PubMed2005

Statistical tools for linkage analysis and genetic association studies.

Genetic mapping by linkage analysis has been an invaluable tool in the positional strategy to identify the molecular basis of many rare Mendelian disorders. With the attention of the scientific and medical community shifting towards the analysis of more common, complex traits, it has become necessary to develop new approaches that take into account the complexity of the genetic basis of these disorders and their possible interaction with other, nongenetic factors. Linkage disequilibrium studies are now becoming increasingly popular thanks to the advent of genotyping platforms that allow genome-wide searching for association between hundreds of thousands of random polymorphisms and disease phenotypes in large samples of unrelated individuals. Moreover, the definition of the disease phenotype itself is being reconsidered to include quantitative traits that may better define the underlying biologic mechanisms for many pathologic conditions. This article will review classic and new approaches to genetic mapping by linkage and association analysis and discuss the directions this field is likely to take in the near future.

Alleles↗
PubMed1996

[Advances in genetics: what benefits children?].

The advent of genetic therapy has raised great hopes, but it is clear that for children and their parents, the primary benefit from recent progress is in the possibility of positive diagnosis and presymptomatic diagnosis allowing more adapted management. For the family, genetic counselling allows well informed family planning and birth of healthy children. For the child to be born, continuing progress in genotypic diagnosis often leads to very delicate questions during the antenatal period, especially since certain diagnoses are still difficult and prognosis less than sure. The wide range of tools in molecular genetics may provide the answer in many situations. The rapid development of genetic tools in developed countries should now raise the question of their use in developing countries. This point might have a particular impact in research on genetic factors and sensibility to frequent infectious diseases such as tuberculosis or malaria. In this case, the aim is not diagnosis but the discovery of genes regulating susceptibility which could lead to pharmaceutical developments. This is undoubtedly a long term objective, but should not be overlooked.

Age Factors↗