[Editorial: Diagnostic criteria for the identification of thalassemia and its variants].
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Erythrocyte Count↗
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Results for “Variant identification”
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Identification of serum cholinesterase fluoride variants by differential inhibition in tris and phosphate buffers.
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Black People↗
[Identification of a new antigenic variant of simian adenovirus (SV30N)].
A new variant of simian adenovirus SV30-N is described. The variant is antigenically close to SV30 virus in the neutralization test but has some antigenic relationship to SA7 virus. The properties of SV30-N virus were retained after 5 clonings by the plaque method, after passage and cloning of the virus treated with immune sera to SV30 or SA7. The heteroduplex analysis showed DNA of the virus under study to be by 80% and 40% homologous to SV30 DNA and SA7 DNA, respectively, whereas no heteroduplex molecules between SV30 and SA7 DNA were found. By the set of polypeptides the antigenic variant SV30-N is close to SV30 but differs from SV30 and, particularly from SA7. Unlike SV30 and SA7 viruses, the SV30-N virus showed no oncogenic activity for hamsters.
Adenoviridae↗
[Identification of a new antigenic variant of simian adenovirus SA7 P].
Serological, biological, and physico-chemical properties of a new antigenic variant of simian adenovirus SA7P were studied. Neutralization tests with hyperimmune specific antisera demonstrated the new antigenic variant SA7P to have very significant antigenic similarity with the prototype SA7 strain. Same as the latter, SA7P does not agglutinate rat red blood cells, is highly oncogenic for newborn Syrian hamsters and capable of transforming rat kidney cell cultures. At the same time, the method of heteroduplex analysis showed SA7P DNA to be homologous to DNA of the reference SA7 strain by 85% and to contain 3 non-homologous regions in the right part of the virus genome. Comparison of the physical maps of the 2 virus DNAs by 4 restrictases established considerable differences in the number of recognition sites and their location.
Adenoviridae↗
Allergic bronchopulmonary aspergillosis presenting with cough variant asthma and identifiable source of Aspergillus fumigatus.
BACKGROUND: A 76-year-old man developed allergic bronchopulmonary aspergillosis initially presenting with cough variant asthma. Symptoms worsened after exposure to ground mulch which was an identifiable source of Aspergillus fumigatus. Symptoms improved after corticosteroids and avoidance measures were instituted. OBJECTIVE: To report a case of allergic bronchopulmonary aspergillosis presenting as cough variant asthma with identifiable source of Aspergillus fumigatus. METHODS: Single case report. Serum precipitating antibodies against Aspergillus fumigatus were tested using gel diffusion techniques. Total IgE, specific IgE, and IgG indices were measured by ELISA. Cutaneous reactivity to Aspergillus fumigatus was also tested. RESULTS: Skin test and serum precipitating antibodies to Aspergillus fumigatus were positive. Precipitins were also detected between Aspergillus fumigatus and the mulch. Total serum IgE was 538 IU/mL (1290 ng/mL) which declined to 228 IU/mL (544 ng/mL) after corticosteroid therapy. IgE index = 1.10 and IgG index = 2.86. CONCLUSION: Allergic bronchopulmonary aspergillosis can present as cough variant asthma. Identification of exacerbating factors such as sources of Aspergillus fumigatus are important in management.
Aged↗
Identification of a DRB1*0405 variant (DRB1*04052) using the PCR-RFLP method.
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Alleles↗
Identification of a novel, spliced variant of CREB that is preferentially expressed in the thymus.
A conserved decamer sequence, AGTGA(T/C)(G/A)TCA, related to the cAMP response element (CRE), is found in the promoter regions of most TCR V beta gene segments. It has been shown to be a critical element for T cell-specific transcriptional regulation of the TCR genes. However, none of the decamer or CRE-binding proteins identified thus far is restricted in its expression to cells of the T cell lineage. Therefore, to find T cell-restricted decamer-binding proteins, we screened thymus cDNA expression libraries using the decamer probe. One of the thymus cDNAs identified, clone pmLY2, a novel spliced variant of CREB, was shown to be preferentially expressed in thymus. Therefore, clone pmLY2 is the first T cell-enriched decamer-binding sequence identified. We hypothesize that this CREB variant may play a role in the developmental regulation of TCR and of other T cell specific genes.
Activating Transcription Factor 2↗
[Office hypertension--early stage of hypertension. Epidemiology, causes and consequences].
The prevalence of office hypertension is approximately 20-25% of all untreated "hypertensives" identified in the doctor's office, i.e. in Germany some 3 million patients. During the following years a considerable proportion (50-75%) of patients with office hypertension will develop established hypertension. Office or white coat hypertension seems to represent a frequent prehypertensive state. Compared to normotensive controls patients with office hypertension exhibit abnormal regulation of systolic and diastolic blood pressure with a steeper early morning rise and a deeper nocturnal fall leading to a greater blood pressure amplitude (amplitude hypertension). Furthermore patients with office hypertension have functional cardiovascular abnormalities. The hemodynamic, functional and biochemical findings indicate abnormal baroreceptor sensitivity and increased sympathetic tone during the day. Office hypertension cannot be considered to be an innocent blood pressure variant. The identification of patients with office hypertension is of diagnostic, prognostic and therapeutic significance.
Adolescent↗
Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia.
Familial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junctions. We present a simple assay based on PCR and denaturing gradient gel electrophoresis, which allows scanning of the promoter, the entire coding sequence, and the splice junctions of the apo CII gene for sequence variants. All gene fragments are amplified using a common PCR protocol and are examined for mutations on a single gradient gel. Using this method and direct sequencing, we identified homozygosity for a donor splice-site mutation in the second intron, previously designated apo CII-Hamburg, as the genetic cause of apo CII deficiency in a 9-year-old boy presenting with chylomicronemia, eruptive xanthoma, and pancreatitis. In addition, the method allowed us to detect all of six different other known mutations of the apo CII gene. We conclude, therefore, that our assay is highly sensitive; in addition, it is easy to perform and may facilitate the differential diagnosis of disorders of lipoprotein metabolism at the genetic level.
Alternative Splicing↗
[Consideration of a priori information and type of an experimental error using the method of system identification based on the minimal quadratic discrepancy criterion].
The variants of the identification method were considered that take the a priori information about the evolution of a system under study and the type of experimental errors of the dynamic parameters of the system into account. An example of using this method for the identification of a biochemical reaction is given where the error in measuring the dynamic parameters (concentration of substances) has both an absolute and a relative components.
Algorithms↗
Cytometrically monitored neoplastic progression in the Nb bladder cancer model: selective proliferation of variant subpopulations.
The identification and understanding of neoplasm heterogeneity is essential to allow for more individually oriented treatment modalities. There is a tendency to limit the analysis of neoplasm heterogeneity to diagnostic classification only; however, recently refined methods of rapid subpopulation analysis should expand this restricted usage to monitoring of chemotherapeutic treatment. The documentation of the neoplastic progression of the Nb rat bladder cancer model as a function of variant subpopulation proliferation and selection is reported herein. This documentation represents the efforts of this laboratory to develop a flow cytometrically monitored animal bladder tumor model to evaluate the in vivo effects of chemotherapies on neoplastic subpopulations; particularly those subpopulations potentially metastatic or resistant to therapy. It is anticipated that this will increase our understanding of this model, and more specifically, tumor biology. This particular tumor initially occurred in an aged Noble male breeder rat.
Animals↗
The variant surface glycoproteins of Trypanosoma equiperdum. Identification of a phosphorylated glycopeptide as the cross-reacting antigenic determinant.
The cross-reacting antigenic determinant in the variant surface glycoproteins (VSGs) of Trypanosoma equiperdum was studied by testing the ability of VSG glycopeptides to bind heterologous anti-VSG sera. VSG glycopeptide purification revealed the presence of 3 oligosaccharide sidechains on the mature VSG. These consist of two sidechains containing only mannose and glucosamine and a third containing galactose and mannose (in a 5:1 ratio) as well as phosphorous and ethanolamine. This phosphorylated fragment completely blocked the binding of VSG to heterologous anti-VSG and therefore contained the cross-reacting determinants.
Animals↗
Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy.
Isolated amyloid fibrils from three cases of systemic senile amyloidosis (SSA) contained subunit proteins with molecular masses of 14 (10-20%), 10-12 (60-80%), and 5-6 kD (5-10%) when fractionated under reducing and dissociating conditions. This grouping was identical to that seen in SKO, a case of familial amyloidotic polyneuropathy (FAP) studied earlier. Amino acid sequencing confirmed that SSA subunit proteins were in fact prealbumin (transthyretin). Complete sequence analysis of one SSA preparation revealed the presence of a new variant Pa (TTr) molecule with a single amino acid substitution of isoleucine for valine at position 122. Further studies used an antiserum specific for SKO IV, a subunit protein of SKO previously shown to correspond to carboxy-terminal 78 residues (positions 49-127) of (TTr). Anti-SKO IV reacted with SSA in tissue at equivalent dilutions to anti-Pa (TTr) and with the 10-12-kD fraction of SSA on Western blots; reactivity was blocked by SKO IV, but not by Pa (TTr). SSA is a form of systemic amyloidosis caused by tissue deposition of Pa (TTr) and its fragments, with shared conformational or subunit antigenicity to at least one form of FAP. Identification of a new variant Pa (TTr) molecule in one case suggests further that SSA may be a genetically determined disease expressed late in life.
Amino Acid Sequence↗
Proceedings of a consensus conference: the screening of blood donors for variant CJD.
Since the identification, in 1996, of the first case of variant Creutzfeldt-Jakob disease (vCJD) in humans various approaches have been implemented and/or proposed to prevent this disease from being transfusion transmitted. In addition, a variety of possible laboratory-based approaches have been developed and will continue to be developed for the vCJD screening of blood donors. Various issues related to the implementation of such vCJD testing is likely to assume greater importance as diagnostic tests for vCJD becomes available for the potential screening of blood donors. The purpose of this Consensus Conference was to bring together international experts in an effort to determine which principles should guide the introduction of such testing. These experts provided the scientific and biological background of bovine spongiform encephalopathy (BSE) and vCJD, an understanding of their current epidemiology, as well as the ethical and legal issues that would impact on the implementation of a screening test for preventing the transfusion transmission of vCJD. This contentious issue is of potential considerable importance to transfusion medicine personnel worldwide, as well as to future recipients of allogeneic blood components.
Animals↗
Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56,419 completely sequenced and manually annotated full-length cDNAs.
We report the first genome-wide identification and characterization of alternative splicing in human gene transcripts based on analysis of the full-length cDNAs. Applying both manual and computational analyses for 56,419 completely sequenced and precisely annotated full-length cDNAs selected for the H-Invitational human transcriptome annotation meetings, we identified 6877 alternative splicing genes with 18 297 different alternative splicing variants. A total of 37,670 exons were involved in these alternative splicing events. The encoded protein sequences were affected in 6005 of the 6877 genes. Notably, alternative splicing affected protein motifs in 3015 genes, subcellular localizations in 2982 genes and transmembrane domains in 1348 genes. We also identified interesting patterns of alternative splicing, in which two distinct genes seemed to be bridged, nested or having overlapping protein coding sequences (CDSs) of different reading frames (multiple CDS). In these cases, completely unrelated proteins are encoded by a single locus. Genome-wide annotations of alternative splicing, relying on full-length cDNAs, should lay firm groundwork for exploring in detail the diversification of protein function, which is mediated by the fast expanding universe of alternative splicing variants.
Alternative Splicing↗
Identification of a dysfunctional missense single nucleotide variant of human adenylyl cyclase VI.
Genetic variants have been described for a range of G protein-coupled receptors (as well as for G proteins) linked to adenylyl cyclase. Furthermore, expression of these variants resulted in alterations in receptor-mediated activation of adenylyl cyclase, as well as alterations in more "downstream" effector pathways mediated by cyclic adenosine monophosphate. However, the identification of dysfunctional variants of adenylyl cyclase has been far more limited. Screening a region of the molecule that we recently demonstrated to be critical in regulation of enzyme activity, we have identified a missense single-nucleotide variant at amino acid 674 of human adenylyl cyclase isoform VI. In a population of 286 healthy white subjects, this variant has an allelic frequency of 3.1% (although 0/90 nonwhite subjects had this variant). Expression of this variant of adenylyl cyclase VI (whether expressed as the S674 human adenylyl cyclase VI [ADCY6] or the S686 ADCY6 rat analog) is characterized by a significant decrease in stimulated adenylyl cyclase activity (forskolin-stimulated activity of the S674 human ADCY6 variant was decreased to 56% +/- 6% of the activity of the A674 variant [mean +/- SEM]; n = 9; P = .004). Furthermore, subjects with the S674 variant demonstrated a significantly higher lymphocyte count (2.68 +/- 4.13 x 10(3)/mm3 versus 1.90 +/- 0.72 x 10(3)/mm3, P = .019). Paralleling this phenotype, expression of the variant was associated with attenuation of the forskolin-mediated reduction in cell growth rate to 64% +/- 5% of the effect seen with expression of the wild-type ADCY6 (n = 4; P = .001). In summary, these data demonstrate an unappreciated variant of adenylyl cyclase isoform VI that has a functional impact on both enzyme activity and cyclic adenosine monophosphate-mediated regulation of cell growth.
Adenylyl Cyclases↗
Stabilization and preservation of the antigenic specificity of Trypanosoma (Trypanozoon) brucei variant specific surface antigens by mild fixation techniques.
Living bloodstream trypansomes fixed by suspension in a 1% formalin solution maintain both their morphology and the immunological specificity of their variant specific surface glycoprotein, so allowing precise identification of the variant types present in a trypanosome population by direct or indirect immunofluorescence combined with phase microscopy. The technique is simple, adaptable to the study of low parasitaemias and should facilitate analysis of the phenomenon of antigenic variation both in the field and the laboratory.
Animals↗
Identification of a unique splice site variant in SLC39A4 in bovine hereditary zinc deficiency, lethal trait A46: An animal model of acrodermatitis enteropathica.
Lethal trait A46, also known as bovine hereditary zinc deficiency, Adema disease, and hereditary parakeratosis, is an autosomal recessive disorder first described in 1964, with a clinical presentation similar to that of acrodermatitis enteropathica (AE) in humans. The molecular basis of the defect has not been previously identified. Recently, the basic defect in AE was found to lie in SLC39A4. We report the characterization of the bovine ortholog of SLC39A4 and identification of a unique splice site variant within this gene in affected animals. The mutation leads to exon skipping, leaving the coding region in frame. The gene product is predicted to lack two critical motifs, which lie in adjacent transmembrane domains implicated in the formation of a pore responsible for the transport of zinc. While further functional studies are warranted, this unique variant is likely to be responsible for the impaired zinc absorption in this disease.
Acrodermatitis↗