Common polymorphisms of beta1-adrenoceptor: identification and rapid screening assay.
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Genetic Testing↗
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Strain variation in adenovirus serotypes 4 and 7a causing acute respiratory disease.
In order to determine the suitability of vaccine strains established in the 1960s for a new vaccine, a comprehensive study of strain variation of adenovirus serotype 4 (AV 4) and AV 7 was undertaken. A 1,500-bp region of the hexon gene containing the AV neutralization epitopes from prototype, vaccine, and community-acquired strains and from wild-type strains from military personnel that cause acute respiratory disease (ARD) was sequenced and analyzed. The whole hexon gene from prototype strains, vaccine strains, and selected isolates was sequenced. AV 7 and AV 7a were found to have distinct genotypes, and all vaccine and wild-type strains recovered from 1963 to 1997 had the AV 7a genotype. There was no significant strain variation in the neutralization epitopes of the AV 7a genotype over a 42-year period. The evolution of AV 4 was more complex, with continuous genetic drift punctuated by replacement with a new strain. The current strain of AV 4, which has been in circulation since 1995, is significantly different from the AV 4 prototype and the vaccine strains. Genetic differences were confirmed to be antigenic differences by neutralization tests, which define the new strain as an AV 4 variant. A type-specific PCR for AV 4, AV 7/7a, and AV 21 was developed, and this PCR facilitated the rapid identification of isolates from outbreaks of ARD.
Adenovirus Infections, Human↗
Cognitive deficits in parents from multiple-incidence autism families.
This study compares parents of two autistic children with parents of a Down syndrome (DS) proband, on tests of intelligence, reading and spelling, and executive function. Autism parents performed significantly worse than DS parents on performance IQ, a test of executive function, and some reading measures (e.g. passage comprehension and rapid automatized naming). These results suggest that cognitive deficits may be an expression of the underlying genetic liability for autism and that these characteristics may contribute to a more broadly defined autism phenotype.
Adolescent↗
Aneuploidy in Drosophila, II. Further validation of the FIX and ZESTE genetic test systems employing female Drosophila melanogaster.
Two sensitive genetic systems for the detection of germline aneuploidy employing Drosophila melanogaster females were described in the first paper of this series (Zimmering et al., submitted to Mutation Research). Designated FIX and ZESTE, these systems permit the rapid and efficient detection of exceptional offspring derived from aneuploid female germ cells. The current report presents test results from a survey of 8 additional chemicals that have been analyzed in both systems. The tested chemicals include: acetonitrile, cadmium chloride, carbendazim, dimethylsulfoxide (DMSO), methylmercury(II) chloride, methoxyethyl acetate, propionitrile and water. Excluding the negative control, water, only the fungicide carbendazim failed to induce aneuploidy in either test system. Of the remaining 6 chemicals one, methylmercury(II) chloride, was positive in the FIX system but not in ZESTE, while MEA was positive in ZESTE and borderline in FIX. The results provide little evidence of germ-cell stage specificity of response to the tested chemicals. Comparison of the induced rates of aneuploidy i indicates that these can exhibit departures from simple additivity to the spontaneous rates: induced rates in the ZESTE system are generally higher and more variable than those from FIX. Possible reasons for the difference in responsiveness between FIX and ZESTE flies are discussed as is the question of the classification of those chemicals which induce chromosome loss events but not chromosome gains.
Acetates↗
Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis.
The field of medical, molecular diagnostics has grown rapidly over the last few years, becoming increasingly informative to both clinician and patient. As genes associated with specific diseases have been discovered and sequenced, many genotype-phenotype relationships have been defined. For those genetic diseases with associated, defined, gene mutations, sophisticated DNA diagnostic tests are being developed. As an example, the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, is associated with Cystic Fibrosis (CF). We have developed a new molecular diagnostic technology, PCR/OLA/SCS, and applied it first to the diagnosis of CF. Test design in the field of molecular diagnostics must consider such characteristics as specificity, sensitivity, ease and speed of protocol, multiplex capacity, and cost. PCR/OLA/SCS addresses these requirements. Polymerase Chain Reaction (PCR) is widely used in both diagnostics and research. We have combined well established PCR technology with Oligonucleotide Ligation Assay (OLA) and Sequence-Coded Separation (SCS), two relatively new technologies.
Alleles↗
[Diagnosis of mycobacterial disease by biochemical and immunological parameters].
A definitive diagnosis of tuberculosis requires the recovery of M. tuberculosis organisms from a patient's secretions, body fluids, or tissues. However, the detection rate of M. tuberculosis is not high in tuberculous pleural effusions. Several studies demonstrated that adenosine deaminase (ADA) level in pleural effusion above 50 IU/L was strongly associated with tuberculosis. ADA has been found to be elevated in serum and several body fluids that are infected by M. tuberculosis. Recently, the simultaneous skin tests of PPDs (M. tuberculosis), PPD-B (M. intracellulare), PPD-Y (M. kansasii) and PPD-F (M. fortuitum), have been reported to be useful in diagnosing mycobacteriosis in the early stage of the disease. Although serodiagnosis of tuberculosis has long been the subject of investigation, no serodiagnostic approach is currently of widespread and clinical utility. At the present time, several serodiagnostic test using enzyme-linked immunosorbent assay (ELISA) for the measurement of IgG antibody to some protein (38-kDa, 30-kDa, 16-kDa and so on) and nonprotein (lipoarabinomannan and cord factor) antigens. Despite an explosion in the techniques of rapid identification of mycobacteria by molecular genetic means, the relative simplicity and low cost of serodiagnosis remain attractive.
Adenosine Deaminase↗
Microdissection-Based p53 Genotyping: Concepts for Molecular Testing.
p53 is the most commonly altered tumor-suppressor gene in humans, involved in the development and progression of many diverse forms of human cancer. Although much remains to be learned about the biology of this important growth regulatory gene, sufficient experience has been accumulated with respect to the occurrence and pattern of p53 mutational change to justify molecular diagnostic testing for specific objectives. The authors outline specific concepts for testing with particular emphasis for solid tumor molecular diagnostics. This article focuses on microdissection-based fixed tissue molecular analysis, introducing new considerations related to quality control appropriate for this type of methodology. Given the rapidly evolving nature of molecular genetics, the suggestions provided here should be viewed as flexible. Nevertheless, the concepts are intended to serve as a model for other oncogene/tumor suppressor-gene assays to be developed with the overall purpose of establishing informative integrated histopathologic/genetic molecular diagnostic testing to complement standard microscopic analysis.
Journal Article↗
Etiology of reading difficulties and rapid naming: the Colorado Twin Study of Reading Disability.
Children with reading deficits perform more slowly than normally-achieving readers on speed of processing measures, such as rapid naming (RN). Although rapid naming is a well-established correlate of reading performance and both are heritable, few studies have attempted to assess the cause of their covariation. Measures of rapid naming (numbers, colors, objects, and letters subtests), phonological decoding, orthographic choice, and a composite variable (DISCR) derived from the reading recognition, reading comprehension, and spelling subtests of the Peabody Individual Achievement Test were obtained from a total of 550 twin pairs with a positive school history of reading problems. Basic DeFries and Fulker (DF) multiple regression models for the analysis of selected twin data confirmed the heritable nature of phonological decoding, orthographic choice, DISCR, and rapid-naming composites. Bivariate DF models were employed to examine the extent to which deficits in the three reading-related measures covary genetically with rapid naming. Significant bivariate heritability estimates for each of the reading measures with the numbers and letters rapid-naming composite were also obtained. As expected, univariate sib-pair linkage analyses indicated the presence of a quantitative trait locus (QTL) on chromosome 6p21.3 for phonological decoding and orthographic choice deficits. Bivariate linkage analyses were then conducted to test the hypothesis that this QTL for reading difficulties is pleiotropic for slower performance on RN tasks. The results obtained from these analyses did not provide substantial evidence that the 6p QTL for reading difficulties has significant effects on rapid naming; however, larger samples would be required to test this hypothesis more rigorously.
Adolescent↗
Molecular diagnostics in central nervous system tumors.
Central nervous system (CNS) neoplasms can be diagnostically challenging, due to remarkably wide ranges in histologic appearance, biologic behavior, and therapeutic approach. Nevertheless, accurate diagnosis is the critical first step in providing optimal patient care. As with other oncology-based specialties, there is a rapidly expanding interest and enthusiasm for identifying and utilizing new biomarkers to enhance the day-to-day practice of surgical neuropathology. In this regard, the field is primed by recent advances in basic research, elucidating the molecular mechanisms of tumorigenesis and progression in the most common adult and pediatric brain tumors. Thus far, few have made the transition into routine clinical practice, the most notable example being 1p and 19q testing in oligodendroglial tumors. However, the field is rapidly evolving and many other biomarkers are likely to emerge as useful ancillary diagnostic, prognostic, or therapeutic aids. The goal of this article is to highlight the most common genetic alterations currently implicated in CNS tumors, focusing most on those that are either already in common use in ancillary molecular diagnostics testing or are likely to become so in the near future.
Animals↗
The National Toxicology Program evaluation of genetically altered mice as predictive models for identifying carcinogens.
National Institute of Environmental Health Sciences researchers are exploring the utility of genetically altered mice to study mechanisms of carcinogenesis. Two of these mouse models, the Tg.AC (carrier of an activated mouse H-ras oncogene) and the p53+/- (heterozygous for the wild-type tumor suppressor gene Trp53), have genetic alterations that appear to hasten their expression of chemically induced tumors. These 2 models have been proposed as a basis for new strategies for identifying chemical carcinogens and for assessing risk. The National Toxicology Program (NTP) is conducting a series of studies with these 2 genetically altered strains to further examine their strengths and weaknesses for identification of documented rodent and human carcinogens. In this first evaluation, candidates for study were drawn from the NTP historical database of 2-yr rodent carcinogenicity studies and the open literature (primarily for drugs). Results with this first set of 11 chemicals tested in genetically altered mice, compared with previous findings in the traditional 2-yr rodent assays and literature on human tumor findings, appear to support the premise advanced by Tennant et al that these models have the potential to serve as more rapid and less expensive test systems to identify carcinogens.
Animals↗
Molecular genotyping of the murine H-2K MHC class I allele.
An increasing number of genetically modified mouse mutants are employed in immunological research. Many experiments require the crossbreeding of various mouse lines and screening for the genetic background of the offspring. Analysis for various immunological phenotypes such as the MHC class I haplotype is usually performed by FACS analysis of peripheral blood lymphocytes. Here, we report a PCR based technique for the differentiation of the MHC class I H-2K(k) and the H-2K(b) haplotype. Advantages of this method are cost efficiency and rapidity in particular when multiple genetic variables such as the disruption of a gene, transgenesis or the MHC haplotype are to be tested.
Alleles↗
DNA vaccines against cancer: from genes to therapy.
After an erratic history, there is at last a clear opportunity for mobilizing an immune attack against cancer cells. The new strategies are dependent on the techniques of molecular biology, which are able both to identify potential target tumor antigens at the gene level, and to help to unravel the complexities of immune mechanisms required. Vaccine delivery systems can also be genetic, with DNA vaccines able to act as viral mimics and enter several antigen processing pathways. Rational vaccine designs can be rapidly tested in models and selected for pilot clinical trials. One difficulty faced by tumor antigens is that they may be weak, and therefore fail to engage the immune system. Attaching genes encoding alert signals appears to solve this problem. We have focused initially on idiotypic determinants of B-cell tumors, where the encoding variable region genes can induce protective anti-idiotypic immunity if delivered as a fusion protein with a fragment of Tetanus toxin. This model may have relevance for alternative tumor antigens. A clinical trial of patients with lymphoma is in progress, and wider application may be limited only by the ability to bring patients into clinical remission prior to vaccination.
Animals↗
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I.
1. Early diagnosis of Familial Hyperaldosteronism Type I (FH-I, glucocorticoid-suppressible hyperaldosteronism) in asymptomatic, affected individuals is essential if death from stroke is to be prevented. 2. In 21 patients with FH-I (presence of the causative hybrid 11 beta-hydroxylase/aldosterone synthase gene confirmed by Southern blot testing), various biochemical parameters were compared as possible screening tests. Hypokalaemia and elevated plasma aldosterone each detected only two (10%) of the affected individuals. 3. Plasma renin activity 19 (90%) and aldosterone/renin ratio 18 (86%) were more reliable but not free from false negatives. 4. Levels of the urinary 'hybrid' steroid, 18-oxocortisol, were elevated (P < 0.01) in all 15 patients tested (138.2 +/- 17.4 micrograms/g creatinine, range 41.6 +/- 281.0 micrograms/g) with no overlap when compared with 11 normals (9.7 +/- 1.3 micrograms/g, range 2.8-17.4 micrograms/g). 5. We conclude that measurement of urinary 'hybrid' steroids is probably the most rapid and reliable biochemical screening test currently available for FH-I, with confirmation dependent on demonstration of the hybrid gene by genetic techniques.
Adult↗
Can pale, soft, exudative pork be prevented by postmortem sodium bicarbonate injection?
Previous attempts at eliminating the problem of PSE pork by genetic selection or rapid postmortem cooling have been only partially successful. A new approach, namely, postmortem injection of sodium bicarbonate (SBC), was tested on halothane-positive gilts. Sixteen pigs were used to establish a suitable SBC concentration. At approximately 15 min after death, the longissimus of one side of the carcass was injected with 10% (by weight) of .2 to .4 M SBC solutions containing .7% NaCl (wt/vol). All concentrations resulted in a higher ultimate pH, improved muscle color, and reduced drip loss. In a second experiment, with 23 pigs, .3 M SBC was injected into the longissimus and the biceps femoris at either 15 min or 24 h after death and with or without inclusion of .7% NaCl (wt/vol). Compared with controls, the 15-min SBC + NaCl injected samples had darker color (L* of 47 vs 53 in controls), higher ultimate pH (5.6 vs 5.3), lower drip loss (5% vs 10%), and increased protein solubility (140 vs 115 mg/g). Injection at 24 h reduced drip loss (from 10% to 5.7%) but did not correct the color defect. The SBC alone and SBC + NaCl treatments had essentially the same effects in reducing drip loss, increasing ultimate pH, and improving color; but the SBC-NaCl injected samples had improved juiciness and flavor compared with SBC. Early postmortem sodium bicarbonate injection seems to prevent the development of PSE pork when injected into carcasses of halothane-sensitive pigs.
Animals↗
[Genetic medicine in Japan].
Present status of genetic medicine in Japan is reviewed. More than five hundred medical doctors have now been qualified as Japanese board of clinical genetics. Training courses for genetic counselors have started in several colleges. Thirty-six hospitals organized by University or National Centers have independent units of clinical genetics. Two major Japanese homepages concerning about clinical genetics are available. Ethical guidelines for gene testing and prenatal diagnosis are published by Japanese Society for Human Genetics and other Japanese medical societies. Infrastructure for clinical genetics are now rapidly organized in Japan, however lots of problems are still waiting to be solved.
Genetic Therapy↗
The ACR4 receptor-like kinase is required for surface formation of epidermis-related tissues in Arabidopsis thaliana.
In higher plants, an outer layer of meristematic cells, the protoderm, forms early in embryogenesis and this layer gives rise to the epidermis in differentiating tissues. We proposed previously that an Arabidopsis thaliana homolog of crinkly4 (ACR4), a gene for a receptor-like protein kinase, would be involved in differentiation and/or maintenance of epidermis-related tissues. In the present study, we isolated loss-of-function acr4 mutants by a reverse genetic approach. Our extensive analyses using the transmission electron microscopy and the toluidine blue test -- a method that has recently been developed for the rapid visualization of defects in the leaf cuticle -- showed that the acr4 mutations significantly affected the differentiation of leaf epidermal cells, suggesting similar roles for ACR4 and CR4 in the differentiation of leaf epidermis. Our acr4 mutants also had various abnormalities related to epidermal differentiation, which included disorganized cell layers in the integument and endothelium of ovules. In addition, the green fluorescent protein fused to ACR4 was localized preferentially on the lateral and basal plasma membranes in the epidermis of the leaf primordia, suggesting a role for ACR4 in epidermal differentiation at cell surfaces that make contact with adjacent cells. Furthermore, the loss-of-function mutations in the ACR4 and ABNORMAL LEAF SHAPE1 (ALE1) genes, which encode a putative subtilisin-like serine protease, synergistically affected the function of the epidermis such that most leaves fused. Thus, ACR4 seems to play an essential role in the differentiation of proper epidermal cells in both vegetative and reproductive tissues.
Alleles↗
Molecular genetic methods for diagnosis and antibiotic resistance detection of mycobacteria from clinical specimens.
Mycobacteria comprise a diverse group of bacteria that are widespread in nature, some of which cause significant disease in humans. Members of the Mycobacterium tuberculosis complex (MTBC) are the most important human pathogens of the genus Mycobacterium. Traditional methods for detection and identification of mycobacteria include microscopy, culture and phenotypic tests. These methods either lack sensitivity, specificity, or are time consuming. Advances in the field of molecular biology have provided rapid diagnostic tools that have reduced the turnaround times for detecting MTBC and drug resistance in cultures and directly in clinical specimens from weeks to days. This review discusses the molecular genetic techniques for detecting and identifying MTBC as well as drug resistance of mycobacteria in clinical specimens.
Bacterial Typing Techniques↗
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Peroxisome biogenesis disorders in the Zellweger syndrome spectrum (PBD-ZSS) are caused by defects in at least 12 PEX genes required for normal organelle assembly. Clinical and biochemical features continue to be used reliably to assign patients to this general disease category. Identification of the precise genetic defect is important, however, to permit carrier testing and early prenatal diagnosis. Molecular analysis is likely to expand the clinical spectrum of PBD and may also provide data relevant to prognosis and future therapeutic intervention. However, the large number of genes involved has thus far impeded rapid mutation identification. In response, we developed the PEX Gene Screen, an algorithm for the systematic screening of exons in the six PEX genes most commonly defective in PBD-ZSS. We used PCR amplification of genomic DNA and sequencing to screen 91 unclassified PBD-ZSS patients for mutations in PEX1, PEX26, PEX6, PEX12, PEX10, and PEX2. A maximum of 14 reactions per patient identified pathological mutations in 79% and both mutant alleles in 54%. Twenty-five novel mutations were identified overall. The proportion of patients with different PEX gene defects correlated with frequencies previously identified by complementation analysis. This systematic, hierarchical approach to mutation identification is therefore a valuable tool to identify rapidly the molecular etiology of suspected PBD-ZSS disorders.
Algorithms↗