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PubMed2005

Genetic diversity of Plasmodium falciparum histidine-rich protein 2 (PfHRP2) and its effect on the performance of PfHRP2-based rapid diagnostic tests.

Rising costs of antimalarial agents are increasing the demand for accurate diagnosis of malaria. Rapid diagnostic tests (RDTs) offer great potential to improve the diagnosis of malaria, particularly in remote areas. Many RDTs are based on the detection of Plasmodium falciparum histidine-rich protein (PfHRP) 2, but reports from field tests have questioned their sensitivity and reliability. We hypothesize that the variability in the results of PfHRP2-based RDTs is related to the variability in the target antigen. We tested this hypothesis by examining the genetic diversity of PfHRP2, which includes numerous amino acid repeats, in 75 P. falciparum lines and isolates originating from 19 countries and testing a subset of parasites by use of 2 PfHRP2-based RDTs. We observed extensive diversity in PfHRP2 sequences, both within and between countries. Logistic regression analysis indicated that 2 types of repeats were predictive of RDT detection sensitivity (87.5% accuracy), with predictions suggesting that only 84% of P. falciparum parasites in the Asia-Pacific region are likely to be detected at densities < or = 250 parasites/microL. Our data also indicated that PfHRP3 may play a role in the performance of PfHRP2-based RDTs. These findings provide an alternative explanation for the variable sensitivity in field tests of malaria RDTs that is not due to the quality of the RDTs.

Amino Acid Sequence↗
PubMed2006

Ethical obligations and counseling challenges in cancer genetics.

Cancer genetics is creating new practice opportunities in medical genetics, oncology, and primary care. The ethical and counseling challenges of this new area of practice are not unique but sometimes take new form in the context of genetic risk. This article uses cases to explore the issues associated with shared family risk, including competing concerns of family members, duty to warn relatives of genetic risk, and testing of children and other relatives. The ethical obligations of clinicians start with the need to maintain competence in the face of rapidly evolving science. Clinicians should be able to identify patients within their practice who are candidates for genetic testing. When genetic susceptibility to cancer is identified, patients should be offered counseling and follow-up, with referral as appropriate, to ensure delivery of care consistent with current standards. When patients experience barriers to needed health care, clinicians should advocate for their needs. Clinicians must ensure the autonomy and informed decision-making of all members of cancer-prone families. Clinicians must also provide emotional support and accurate information about cancer risks and cancer risk reduction measures, including uncertainties. Teamwork among different specialties is important in addressing these challenges.

Adult↗
PubMedDate not supplied

Polymerase chain reaction analysis of fragile X mutations.

The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1. The unusually GC-rich composition of the expanded region has impeded attempts to amplify it by the polymerase chain reaction (PCR). We have developed a PCR protocol that successfully amplifies the (CGG)n region in normal, carrier and affected individuals. The PCR analysis of several large fragile X families is presented. The PCR results agree with those obtained by direct genomic Southern blot analyses. These favorable comparisons suggest that the PCR assay may be suitable for rapid testing for fragile X mutations and premutations and genetic screening of at-risk individuals.

Base Sequence↗
PubMed2004

Molecular pathogenesis of oligodendroglial tumors.

Based on their histopathological appearances, most diffusely infiltrative gliomas can be classified either as astrocytic tumors (As), pure oligodendroglial tumors (Os) or mixed oligoastrocytic tumors (OAs). The latter two may be grouped together as oligodendroglial tumors (OTs). The distinction between As and OTs is important because of the more favorable clinical behavior of OTs. Unfortunately, the histopathological delineation of OAs, Os and As can be difficult because of vague and subjective histopathological criteria. Over the last decade, the knowledge on the molecular genetic background of OTs has drastically increased. This review provides an overview of molecular genetic aberrations in OTs and discusses the pathobiological and clinical significance of these aberrations. In contrast to As, OTs frequently show frequent loss of heterozygosity on chromosome arms 1p and 19q. Since these aberrations are significantly correlated with clinically relevant parameters, such as prognosis and chemosensitivity, and given the difficulties in histopathological typing and grading of glial tumors, genetic testing should be included in routine glioma diagnostics. It is to be expected that the identification of the relevant tumor suppressor genes located on 1p and 19q will lead to more refined genetic tests for OTs. Furthermore, as microarray technology is rapidly increasing, it is likely that clinically relevant markers for OTs will be identified on other chromosomes and need to be included into routine glioma diagnostics as well.

Astrocytoma↗
PubMed1985

A rapid quantitative method based on motility of bull sperm cells for in vitro toxicity testing of biomaterials.

A quantitative method for in vitro toxicity testing of biomaterials, based on measurements of time-dependent changes of bull sperm motility, is described. In comparison to the haemolytic and toxic effects of biomaterials such as polyurethanes, poly(vinyl chloride) tubes and bioglass ceramics on erythrocytes and the proliferation rate of human embryonic lung fibroblasts, this method is shown to be more sensitive. The simplicity, rapidity and reproducibility of the test under application of genetically identical cells are advantages that make it suitable for screening large numbers of samples. The quantification of test results allows inter-laboratory comparison.

Animals↗
PubMed2006

Species identification of erythromycin-resistant Campylobacter isolates and optimization of a duplex PCR for rapid detection.

This study describes the approach used to verify the species identity of 23 erythromycin-resistant Campylobacter isolates whose identity was initially determined based mainly on the results of the rapid hippurate hydrolysis test or the results of the API-Campy identification system. Species identification of the isolates investigated was confirmed by repeating hippurate hydrolysis using a modification of the rapid hydrolysis test, in addition to performing three genetic-based assays. The original identification was verified in 69.6% of the isolates. The remaining isolates showed discrepancies in identity as determined by results of the identification assays performed. A duplex PCR assay, targeting the hipO and aspA genes, indicated the existence of mixed cultures of C. jejuni and C. coli in the frozen stocks of two of these isolates.

Anti-Bacterial Agents↗
PubMed1992

Recent advances in studies of the molecular basis of endocrine disease.

The molecular basis for a number of endocrine disorders has been determined in the last several years. Mutations have been described at multiple different steps in the pathways of hormone action. There are now examples of mutations in hormones themselves, hormone receptors, second messenger signalling pathways, and the transcription factors that transduce hormone signals. Several common themes emerge even from the relatively small number of mutations that have been described to date. First, the phenotypic variability that characterizes many endocrine diseases is also reflected in genetic heterogeneity. Some clinical phenotypes that were thought previously to represent distinct diseases can now be interpreted as manifestations of different types of mutations within a single gene. Second, the propensity of certain genes to be targets for frequent mutations may be explained in part by gene structure and organization. Third, although many of the mutations reported initially have been associated with severely affected patients, it is likely that mutations with less severe consequences will also be identified. Genetic polymorphisms within the normal population could also cause subtle differences in hormone or receptor activity, thereby constituting part of the basis for variability in hormone levels and activity. Finally, one can predict continued rapid advances in this field with transfer of genetic testing into clinical practice in the near future.

Animals↗
PubMed1999

Neonatal nursing and the genetics revolution!

Discoveries from the Human Genome Project are having a significant impact on the way we look at genetic makeup, health, and disease. As a result of this new knowledge, changes will be made in how diseases are treated and how nurses work with patients and their families. The National Coalition for Health Professionals Education in Genetics was formed to strengthen baseline knowledge in genetics of nurses and other health professionals. For neonatal nurses, this is an extremely important area that will become more and more critical to care as genetics knowledge continues to rapidly expand. Neonatal nurses must be knowledgeable about genetics, genetic testing, and the use and possible misuse of genetic information. This article describes the impact of genetics on neonatal care.

Genetic Linkage↗
PubMed2006

A qualitative study of GPs' views on modern genetics.

BACKGROUND: With rapid advances in genetics and increased public awareness of genetic testing for many hereditary diseases, the demand for genetic services may increase. We wondered how developments in genetics have impacted on general practice and the position general practitioners have taken in practising the new genetics. METHOD: A qualitative study using semi-structured interviews conducted during 2003-2004 with 15 GPs practising in Sydney (New South Wales) and the Australian Capital Territory. RESULTS: General practitioners reported that genetic services had minimal impact on their practice and the number of consultations related to genetic conditions was insignificant. They felt they were often not included in the 'referral loop' of such patients. Their knowledge of advances in genetics was limited. They were wary of the possible costs of testing and the time taken to provide genetic counselling. DISCUSSION: General practitioners' attitudes toward modern genetics seems to be disengaged, and they are ambivalent toward the role they now play, or will play, in genetic services.

Attitude of Health Personnel↗
PubMed1980

Deactivation of furyl furamide (AF-2) by rat-liver microsomes and its implication in short-term tests for mutagenicity/carcinogenicity.

The genetic activity of AF-2 in both bacteria and yeast rapidly disappeared in the presence of rat-liver microsomal fraction (S9 mix). Incubation of AF-2 with S9 mix even for 10 min at 37 degrees C was sufficient to inactivate it completely. Data available in the literature suggest that activation of AF-2 is necessary for its geno-toxic effect. The activation step may involve reduction of the nitrofuran to an amino group probably by the enzyme reductase I. Most cultured cell systems, such as bacteria, yeast, Neurospora, mammalian cells and human lymphocytes, can probably bring about this reduction. However, the rapid disappearance of the genetic activity of AF-2 in the presence of rat-liver homogenate suggests that rat-liver microsomes may further metabolize the reduction products to inactive forms. Thus, it becomes necessary to test even those chemicals that are mutagenic per se, with mammalian microsomal preparations before their mutagenic/carcinogenic potentialities can be assessed in short-term tests.

Biotransformation↗
PubMed2004

Differences in the expressed HLA class I alleles effect the differential clustering of HIV type 1-specific T cell responses in infected Chinese and caucasians.

China is a region of the world with a rapidly spreading HIV-1 epidemic. Studies providing insights into HIV-1 pathogenesis in infected Chinese are urgently needed to support the design and testing of an effective HIV-1 vaccine for this population. HIV-1-specific T cell responses were characterized in 32 HIV-1-infected individuals of Chinese origin and compared to 34 infected caucasians using 410 overlapping peptides spanning the entire HIV-1 clade B consensus sequence in an IFN-gamma ELISpot assay. All HIV-1 proteins were targeted with similar frequency in both populations and all study subjects recognized at least one overlapping peptide. HIV-1-specific T cell responses clustered in seven different regions of the HIV-1 genome in the Chinese cohort and in nine different regions in the caucasian cohort. The dominant HLA class I alleles expressed in the two populations differed significantly, and differences in epitope clustering pattern were shown to be influenced by differences in class I alleles that restrict immunodominant epitopes. These studies demonstrate that the clustering of HIV-1-specific T cell responses is influenced by the genetic HLA class I background in the study populations. The design and testing of candidate vaccines to fight the rapidly growing HIV-1 epidemic must therefore take the HLA genetics of the population into account as specific regions of the virus can be expected to be differentially targeted in ethnically diverse populations.

Alleles↗
PubMed2003

[Uptake of nickel from industrial wastewater by genetically engineered Escherichia coli JM109].

Heavy metal wastewater poses a serious threat to the environment. In comparison to the existing methods of chemical precipitation, ion exchange and carbon adsorption, biosorption is an attractive alternative for the recovery of heavy metals from industrial effluents. However, nickel ion, different from other heavy metal ions, is a more recalcitrant pollutant and has low affinity to many metal tolerant microorganisms. In this study, Escherichia coli JM109 was genetically engineered to simultaneously express a Ni2+ transport system (the product of nixA gene) andoverexpress metallothionein (MT). NixA protein has a high affinity for Ni2+, and metallothioneins (MTs) are capable of binding a variety of heavy metals including Ni2+ . The Ni2+ bioaccumulation performance of the genetically engineered E. coli JM109 was evaluated. Time-course test showed that the bioaccumulation rate was rapid, and 95% of the accumulation was achieved within the first 10 minutes. The maximum Ni2+ bioaccumulation by genetically engineered E. coli cells was dramatically increased from 1.54 mg/g to 10.11mg/g, a more than five-fold increase than that of the original E. coli strain. The isotherm was of Langmuir type. Within the tested pH range (pH 4-10), the engineered cells displayed more resistance to pH variation, retaining up to 80% of the Ni2+ binding capacity at pH 4, while the original E. coli host cells lost 80% of Ni2+ binding capacity at pH 4. The presence of Na+ and Ca2+ affected Ni2+ bioaccumulation, but the effects were not serious, as 71% and 66% of the Ni2+ binding capacities were retained respectively at the concentrations of 1000 mg/L Na+ and 1000 mg/L Ca2+ . However, Mg2+ exerted a severe adverse effect on Ni2+ bioaccumulation, 83% of Ni2+ accumulating capacity was lost when Mg2+ concentration reached 200 mg/L. The effects of different kinds of heavy metals on Ni2+ accumulating were different. The genetically engineered E. coli cell lost less than 45% of its Ni2+ bioaccumulation activity in the presence of 50 mg/L lead or cadmium, 66% in the presence of 25mg/L mercury and 84% in the presence of 40 mg/L copper. The presence of glucose did not improve Ni2+ uptake. Our study suggests that the genetically engineered E. coli JM109 has potential application for effective and efficient recovery of nickel from aqueous solutions.

Biodegradation, Environmental↗
PubMedDate not supplied

[Experience in selecting safe heat-sensitive influenza virus A recombinants].

Conditions for genetic recombination and laboratory testing of influenza A virus for rapid production of safe vaccine strains needed in human vaccination were developed. The best donors of attenuation were found to include limitingly attenuated outdated vaccine strains adapted to low temperature and having important differentiating features such as thermosensitivity and reduced optimal temperature of neuraminidase activity. Trials in volunteers of a large collection of recombinants produced by recombination of these donors with various virulent strains circulating in 1972--1976 (A/Victoria/72, A/Port Chalmers/73, and A/Virtoria/75) demonstrated complete safety for man of clones with different combinations of rct/40 and OTNA genetic markers.

Adult↗
PubMed2005

Genetic transformation: a powerful tool for dissection of adaptive traits in trees.

Plant transformation and regeneration systems have become indispensable parts of gene discovery and functional characterization over the last two decades. Adoption of transformation methods in studies of plant adaptation to natural environments has been slow. This is a result of poor genomic knowledge and inefficient transformation systems for species dominating terrestrial ecosystems, and logistical difficulties in conducting field tests of genetically engineered organisms. In trees, where long generation cycles, high background polymorphism, large sizes and outcrossing systems of mating make production of near-isogenic lines and large experiments difficult, transformation is an attractive alternative for establishing direct linkages between genes and adaptively significant phenotypes. Here, we outline the capabilities, challenges, and prospects for transformation to become a significant tool for studying the ecophysiological adaptation of trees to the environment. Focusing on poplars (genus Populus) as model system, we describe how transformation-based approaches can provide insights into the genes that control adaptive traits. The availability of the poplar genome sequence, along with its large expressed sequences tag (EST) databanks, facile transformation and rapid growth, enable reverse genetic approaches to be used to test virtually any hypothesis of gene function.

Adaptation, Physiological↗
PubMed1996

Genetic screening and testing by induced heteroduplex formation.

Clustered point mutations and small deletions or insertions within DNA are amenable to rapid analysis using induced heteroduplex formation. A single synthetic molecule (universal heteroduplex generator, UHG) may detect any of a series of such mutations following amplification by the polymerase chain reaction. This paper illustrates the use of UHG-based DNA heteroduplex analysis by describing the construction, properties, and methods of use of five UHGs, designed for genetic screening and testing of the inherited metabolic diseases: phenylketonuria, sickle-cell disease, cystic fibrosis, von Willebrand's disease type 2B, and mamman-binding lectin deficiency. In all cases, identification of multiple disease-associated genotypes is possible using a single UHG.

Anemia, Sickle Cell↗
PubMed1992

Modulation of genotoxicity in Drosophila.

The extensive knowledge of the genetics of Drosophila melanogaster and the long experimental experience with this organism have made it of unique usefulness in mutation research and genetic toxicology. The development of somatic mutation and recombination tests (SMART) has provided sensitive, rapid and cheap assays for investigations of mutagenic and recombinogenic properties of chemicals. The present paper deals with the SMART wing spot assay, developed by Graf et al. (1984). The use of two genetic markers, multiple wing hair (mwh) and flare (flr) in the third chromosome, makes it possible to discern localized recombinogenic effects on the two intervals--the major, euchromatic, part of the chromosome, and the mostly heterochromatic centromere region. The distribution of induced mitotic recombination varied between test chemicals. Ethylene oxide caused a specific increase of twin spots, indicating a localized induction of somatic recombination in the centromere region. The wing spot assay has turned out to be suitable for combined treatment with chemicals in order to study antimutagenic and other modulating effects by mutagenic and recombinogenic chemicals. Examples of the use of this assay for such a purpose are presented in this paper. The inhibitor of poly ADP-ribosylation, 3-aminobenzamide (3AB), caused a pronounced increase of wing spots, induced by alkylating agents. The data indicate that this interaction between alkylating agents and 3AB is solely due to an effect on somatic recombination but not on point mutations. The inhibitor of topoisomerases, novobiocin, which presumably acts on the chromatin configuration, had different modulating effects on spots induced by methyl methanesulfonate (MMS) and ethylnitrosourea (ENU). Novobiocin essentially acted as an antirecombinogenic agent in cotreatment experiments with MMS and as antimutagenic agent with ENU. Attempts to interfere with mutagenic and recombinogenic effects of the radical-generating agents bleomycin, menadione and paraquat, by agents acting on the defence mechanisms against oxygen radicals, were essentially unsuccessful.

Animals↗
PubMedDate not supplied

Predictions for rapid methods and automation in food microbiology.

A discussion is presented on the present status of rapid methods and automation in microbiology. Predictions are also presented for development in the following areas: viable cell counts; real-time monitoring of hygiene; polymerase chain reaction, ribotyping, and genetic tests in food laboratories; automated enzyme-linked immunosorbent assay and immunotests; rapid dipstick technology; biosensors for Hazard Analysis Critical Control Point programs; instant detection of target pathogens by computer-generated matrix; effective separation and concentration for rapid identification of target cells; microbiological alert systems in food packages; and rapid alert kits for detecting pathogens at home.

Automation↗
PubMed2007

Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.

PURPOSE: Long QT Syndrome, Marfan Syndrome, hypertrophic and dilated cardiomyopathy are caused by mutations in large, multi-exon genes that are principally expressed in cardiovascular tissues. Genetic testing for these disorders is labor-intensive and expensive. We sought to develop a more rapid, comprehensive, and cost-effective approach. METHODS: Paired whole blood samples were collected into tubes with or without an RNA-preserving solution, and harvested for whole blood RNA or leukocyte DNA, respectively. Large overlapping cDNA fragments from KCNQ1 and KCNH2 (Long QT Syndrome), MYBPC3 (hypertrophic and dilated cardiomyopathy), or FBN1 (Marfan Syndrome) were amplified from RNA and directly sequenced. Variants were confirmed in leukocyte DNA. RESULTS: All 4 transcripts were amplified and sequenced from whole blood mRNA. Six known and 2 novel mutations were first identified from RNA of 10 probands, and later confirmed in genomic DNA, at considerable savings in time and cost. In one patient with MFS, RNA sequencing directly identified a splicing mutation. Results from RNA and DNA were concordant for single nucleotide polymorphisms at the same loci. CONCLUSION: Taking advantage of new whole blood RNA stabilization methods, we have designed a cost-effective, comprehensive method for mutation detection that should significantly facilitate clinical genetic testing in four lethal cardiovascular disorders.

Adolescent↗