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PubMed1995

Nucleotide variation at the hypervariable esterase 6 isozyme locus of Drosophila simulans.

Esterase 6 (Est-6/EST6) is polymorphic in both Drosophila melanogaster and D. simulans for two common allozyme forms, as well as for several other less common variants. Parallel latitudinal clines in the frequencies of the common EST6-F and EST6-S allozymes in these species have previously been interpreted in terms of a shared amino acid polymorphism that distinguishes the two variants and is subject to selection. Here we compare the sequences of four D. simulans Est-6 isolates and show that overall estimates of nucleotide heterozygosity in both coding and 5' flanking regions are more than threefold higher than those obtained previously for this gene in D. melanogaster. Nevertheless, the ratio of replacement to exon silent-site polymorphism in D. simulans is less than the ratio of replacement to silent divergence between D. simulans and D. melanogaster, which could be the result of increased efficiency of selection against replacement polymorphisms in D. simulans or to divergent selection between the two species. We also find that the amino acid polymorphisms separating EST6-F and EST6-S in D. simulans are not the same as those that separate these allozymes in D. melanogaster, implying that the shared clines do not reflect shared molecular targets for selection. All comparisons within and between the two species reveal a remarkable paucity of variation in a stretch of nearly 400 bp immediately 5' of the gene, indicative of strong selective constraint to retain essential aspects of Est-6 promoter function.

Animals↗

PubMed2005

Benign EEG variants.

EEG is a valuable tool that assists in the accurate diagnosis of seizure disorders. The precise interpretation of EEG requires an ability to recognize patterns that are benign in nature but may be misinterpreted as indicative of a seizure tendency. This review will summarize benign variants encountered in adult EEGs including: small sharp spikes, wicket spikes, fourteen- and six-hertz positive bursts, six-hertz spike and wave, rhythmic temporal theta bursts of drowsiness, subclinical rhythmic electroencephalographic discharge in adults, and midline theta rhythms. Although most of these patterns are relatively uncommon, it is imperative that the clinical neurophysiologist identifies them as benign variants.

Diagnosis, Differential↗

PubMed1999

Properties of learning of a Fuzzy ART Variant.

This paper discusses a variation of the Fuzzy ART algorithm referred to as the Fuzzy ART Variant. The Fuzzy ART Variant is a Fuzzy ART algorithm that uses a very large choice parameter value. Based on the geometrical interpretation of the weights in Fuzzy ART, useful properties of learning associated with the Fuzzy ART Variant are presented and proven. One of these properties establishes an upper bound on the number of list presentations required by the Fuzzy ART Variant to learn an arbitrary list of input patterns. This bound is small and demonstrates the short-training time property of the Fuzzy ART Variant. Through simulation, it is shown that the Fuzzy ART Variant is as good a clustering algorithm as a Fuzzy ART algorithm that uses typical (i.e. small) values for the choice parameter.

Journal Article↗

PubMed2026

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing.

BACKGROUND: Pediatric seizure disorders are clinically and genetically heterogeneous. Whole-exome sequencing has improved the detection of rare genetic variants in childhood epilepsy; however, data from pediatric populations in Southeast China remain limited. This study aimed to characterize the genetic landscape of pediatric seizure disorders in Southeast China and to evaluate the clinical diagnostic yield of whole-exome sequencing. MATERIALS AND METHODS: This retrospective observational study included 21 pediatric patients with seizure disorders who were recruited at the Fifth Hospital of Xiamen, Fujian, China, between January 2021 and June 2024. Clinical data were extracted from medical records. Whole-exome sequencing was performed on DNA extracted from peripheral blood. Sequence variants were annotated, filtered, and classified according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Copy-number variants were evaluated using exome-based algorithms. Descriptive statistics were used because of the limited sample size. RESULTS: WES identified three clinically relevant, likely pathogenic findings in 3 of 21 patients, corresponding to a provisional diagnostic yield of 14.3%. The remaining 62 of 65 variants were of uncertain significance (VUS). The three retained variants included a GLI3 frameshift variant (exon 2: c.90_91insCAGATGTGAGC; p.Glu31Glnfs*3) and two copy-number variants (16p13.12-16p13.11 duplication and Xp22.31 deletion) with established clinical significance. Functional analysis of all 65 variants revealed that ion channel genes and neurodevelopmental genes were the most frequently affected categories. CONCLUSION: Whole-exome sequencing identified clinically relevant genetic findings in a subset of Southeast Chinese children with seizure disorders. The novel GLI3 frameshift variant may suggest an expansion of the GLI3-associated phenotypic spectrum, but further segregation, functional validation, and larger cohort studies are needed. The high proportion of variants of uncertain significance highlights the ongoing challenges of genetic interpretation in pediatric seizure disorders.

GLI3 frameshift variant↗

PubMed1964

CHARACTERISTICS OF AN ABORTIVELY DISPORIC VARIANT OF BACILLUS CEREUS.

Young, I. Elizabeth (University of Alberta, Edmonton, Alberta, Canada). Characteristics of an abortively disporic variant of Bacillus cereus. J. Bacteriol. 88:242-254. 1964.-A variant [A(-)3] of the Bacillus cereus group has been isolated which appears to begin the formation of a spore at each pole of the cell. These pseudo-forespores, like conventional forespores, are initially formed by invagination of the plasma membrane. However, their maturation does not continue the course of normal spore development. There is no further proliferation of the membrane and no development of the peripheral layers, the cortex, spore coat, or exosporium; there is deposition of apparent cell-wall material between the layers of the septa. Each pseudo-forespore receives approximately one-half of the cell's chromatin. With a supply of fresh nutrients, each is able to resume division after elongation to the bacillary form. Furthermore, the portion of the cell lying between the two pseudo-forespores, containing at most a fragment of the total chromatin, is able to resume growth and division. This growth potential has been interpreted as evidence that the chromatin body of the variant contains more than one set of the genetic instructions characteristic of the organism. A single growth cycle in the presence of dipicolinic acid (thought to cure some Bacillus species of phage) results in approximately 40% of the cells producing a single spore. These spores resemble those formed by the organism from which A(-)3 was isolated. The possibility that the abortively disporic state is associated with the presence of an infecting phage is discussed.

Bacillus↗

PubMed2025

Tandem splice acceptor sites: Profiling their relevance to human disease.

PURPOSE: Interpretation of variation, particularly the creation or disruption of tandem splice acceptor sites (NAGNnAG variants), challenges genomic medicine practice. METHODS: We analyzed the creation and disruption of dinucleotide AG sites within ±30 bases of natural splice-acceptor sites in the GRCh37 human reference genome. These results were compared with variant data from the ClinVar and gnomAD databases, as well as with data from 779 National Institutes of Health Undiagnosed Diseases Program study participants. Using RNA sequencing, we assessed the splicing at NAGNnAG variants for 107 of the Undiagnosed Diseases Program participants and compared the empirical data with SpliceAI predictions. RESULTS: Creation or disruption of NAGNnAG sites within 30 bases of the natural splice acceptor are enriched in ClinVar compared with gnomAD; however, such variants in the 2 databases are rarely differentiated by SpliceAI scores. Empirical evaluation via RNA sequencing analysis supported novel acceptor site usage from -21 to +30; splice-altering variants did not predominate in a specific region or have SpliceAI scores invariantly, suggesting increased spliceogenicity. CONCLUSION: NAGNnAG variants within 30 bp of the natural splice acceptor have a high probability of clinical relevance and are poorly contextualized for clinical utility. Their interpretation benefits from empirical evaluation via RNA analysis.

Humans↗

PubMed1996

Mechanistic and structural contributions of critical surface and internal residues to cytochrome c electron transfer reactivity.

The influence of mutations in two conserved regions of yeast iso-1-cytochrome c believed to be critical to the mechanism of cytochrome c electron transfer reactions has been investigated. The variants Asn52Ala, Tyr67Phe, Ile75Met, and Thr78Gly involve perturbation of critical hydrogen-bonding interactions with an internal water molecule (Wat166) and have been studied in terms of their electrochemical properties and the kinetics with which they are reduced by Fe(EDTA)2- and oxidized by Co(phen)3(3+). In parallel studies, the Co(phen)3(3+) oxidation kinetics of Tyr, Leu, Ile, Ala, Ser, and Gly variants of the phylogenetically conserved residue Phe82 have been studied and correlated with previous electrochemical and kinetic results. To assist mechanistic interpretation of these results, the three-dimensional structures of the Asn52Ala and Ile75Met ferrocytochrome c variants have been determined. The reduction potentials of the variants modified in the region of Wat166 were at least 33 mV (pH 6, 25 degrees C, and mu = 0.1 M) lower than that of the wild-type protein. Electron transfer reactivity of this family of variants in both the oxidation and reduction reactions was increased as much as 10-fold over that of the wild-type cytochrome. On the other hand, the reactivity of the position-82 variants in both oxidation and reduction depended on the structural characteristics of the oxidation-reduction reagent with which they reacted, and this reactivity was related to the nature of the residue at this position. These findings have been interpreted as demonstrating that the principal influence of modification at position-82 arises from changes in the nature of reactant-protein interaction at the surface of the protein and in maintaining the high reduction potential of the cytochrome while the principal influence of internal modifications near Wat166 results from alteration of the reorganization energy for the oxidation state-linked conformational change defined by crystallographic analysis of the wild-type protein.

Cytochrome c Group↗

PubMed2006

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.

Mutations in the LRRK2 gene are a cause of autosomal dominant Parkinson's disease (PD). Whether LRRK2 variants influence susceptibility to the commoner, sporadic forms of PD remains largely unknown. Data are particularly limited concerning the Asian population. In search for novel, biologically relevant variants, we sequenced the LRRK2 coding region in Taiwanese patients with PD. Four newly identified variants and another variant recently found in a Taiwanese PD family were tested for association with the disease in a sample of 608 PD cases and 373 ethnically matched controls. Heterozygosity for the Gly2385Arg variant was significantly more frequent among PD patients than controls (nominal p value=0.004, corrected for multiple comparisons=0.012, gender- and age-adjusted odds ratio=2.24, 95% C.I.: 1.29-3.88); this variant was uniformly distributed across genders and age strata. Two novel variants, Met1869Val and Glu1874Stop, were found in one PD case each; their pathogenic role remains, therefore, uncertain. The remaining two novel variants (Ala419Val and Pro755Leu) were present with similar frequency in cases and controls, and were therefore, interpreted as disease-unrelated polymorphisms. Our findings suggest that the LRRK2 Gly2385Arg is the first identified, functionally relevant variant, which acts as common risk factor for sporadic PD in the population of Chinese ethnicity.

Adolescent↗

PubMed1982

Simple screening method for gram-positive bacterial beta-lactam antibiotic tolerance on routine laboratory Bauer-Kirby antibiogram plates.

A simple screening method served to detect beta-lactam antibiotic-tolerant variants of clinical isolates and laboratory control strains of staphylococcus aureus, S. epidermis, group B beta-hemolytic streptococci, and Listeria monocytogenes. The beta-lactamase(s) of a multiple drug-resistant strain of Enterobacter cloacae (isolate No. 19) yielded most consistent results as compared with several other beta-lactamase producers; the E. cloacae beta-lactamase(s) was neutralized by clavulanic acid. Spot inocula of E. cloacae isolate No. 19, following overnight "induction" with 1 microgram/ml of ampicillin and 3 microgram/ml of cephalothin in tryptic soya broth, were applied centrally to beta-lactam antibiotic inhibition zones of Bauer-Kirby antibiogram plates (Mueller-Hinton agar, MHA, and diagnostic sensitivity test agar, DSTA) following removal of the appropriate disks. The spot-inoculated plates were incubated overnight at 35 degrees C and inspected for satellite growths of tolerant variants around the E. cloacae spot inocula. Satellite growths of less than or equal to 10 colonies were interpreted to indicate tolerance of the relevant cell wall synthesis inhibitor. The method readily permitted detection of variants tolerant for ampicillin, cephalothin, penicillin G, piperacillin, azlocillin, and mezlocillin. However, strains documented by minimal inhibitory and minimal bactericidal concentrations to be tolerant for cefotaxime, cefoxitin, fosfomycin, and vancomycin only rarely gave rise to respective satellite growths. DSTA proved superior to MHA with respect to "rescue" of inhibited tolerant staphylococcal variants; furthermore, the diameters of inhibition zones obtained on DSTA correlated well with those on MHA. Therefore, DSTA was adopted as the routine test medium for clinical staphylococcal isolates.

Anti-Bacterial Agents↗

PubMed1990

Frequencies of Band 3 variants of human red cell membranes in some different populations.

A variant of Band 3, the major protein of the erythrocyte membrane, was observed by Mueller and Morrison in 1977 in 6-7% of healthy blood donors on sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of erythrocyte membranes treated with pronase. Pronase treated red cells containing this first recognized variant [here designated 'Band 3-Memphis (m)'] section had two bands of about 63,000 and 60,000 Mr while pronase treated normal cells had only the lighter Mr band. The present study includes data on the frequency of variants resembling Band 3-Memphis in patients of different ethnic groups and on random donors obtained earlier in Memphis. These variants were detected by the original method of Mueller and Morrison and were not associated with recognized clinical or haematological abnormalities. Significantly higher gene frequencies for the variants of the (m) type were observed in American Indians, African Americans and Filipinos than in Caucasians; putative heterozygotes and homozygotes were identified among each of these groups. The frequency of silent Band 3 polymorphisms in different populations should be considered in the interpretation of clinical findings associated with the presence of Band 3 variants.

Anion Exchange Protein 1, Erythrocyte↗

PubMed2006

Batch and median neural gas.

Neural Gas (NG) constitutes a very robust clustering algorithm given Euclidean data which does not suffer from the problem of local minima like simple vector quantization, or topological restrictions like the self-organizing map. Based on the cost function of NG, we introduce a batch variant of NG which shows much faster convergence and which can be interpreted as an optimization of the cost function by the Newton method. This formulation has the additional benefit that, based on the notion of the generalized median in analogy to Median SOM, a variant for non-vectorial proximity data can be introduced. We prove convergence of batch and median versions of NG, SOM, and k-means in a unified formulation, and we investigate the behavior of the algorithms in several experiments.

Algorithms↗

PubMedDate not supplied

Solid papillary carcinoma of breast: an ultrastructural study.

Solid papillary carcinoma of the breast is a subset of papillary carcinoma, which occurs in older women and usually has a favorable prognosis. It is primarily intraductal but also is often associated with invasive carcinoma, especially mucinous carcinoma. Intracellular and extracellular mucin is also found in the in situ stage, in most tumors. In addition to forming solid papillary masses, the cells palisade around vessels in pseudorosettes and show minimal nuclear atypia. Some cells show neuroendocrine differentiation, based on argyophilia with Grimelius staining. Four examples of this neoplasm were studied electron microscopically. Myoepithelial cells were not found. Neoplastic cells had an ultrastructure that was generally similar to that of other types of mammary carcinoma. There were extracellular microlumens, but intracellular lumens and pseudolumens were few or absent. Secretory activity varied among cells, and those cells appearing active had a variety of granule types, including typical flocculent and "bull's-eye" mucinous granules, small dense-core granules, and large serous-like granules. Some of the dense-core granules were interpreted as neuroendocrine in nature, based on their abluminal or juxtavascular location, whereas others that were apical and subluminal were probably mucinous in type. The large serous-appearing granules were subluminal in some cells and diffuse in others and may also have represented a variant of mucinous granules. The results support earlier opinions that accurate interpretation of specific granular function at the electron microscopic level depends on cytochemical studies using uranaffin as a marker of neuroendocrine activity. Although mucinous granules are identified by their lack of staining with uranaffin, the nature of the serous-appearing granules would still not be answered by this method; that is, a negative reaction would not define whether the granules are truly serous, or simply another form of mucin. Regardless of limitations of this type, correlation and extrapolation of histochemical (Grimelius and Alcian blue) and immunohistochemical (chromogranin and synaptophysin) results with subcellular structure are still very useful in establishing cell type.

Aged↗

PubMed2026

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.

MOTIVATION: Changes in genome organisation contribute to genetic disease when they disrupt gene function or regulation. Structural rearrangements may interrupt coding sequence or alter expression through promoter loss or gain, chromatin changes, copy-number variation, or disruption of short-range regulatory elements. Although short-read sequencing excels at detecting small variants, it performs poorly at resolving breakpoints of large rearrangements, especially in repetitive or low-complexity regions. Long-read sequencing overcomes these limitations, but analytical tools have not kept pace, making accurate identification and annotation of large structural variants challenging. RESULTS: We developed AgileStructure, a desktop application for locating and annotating large‑scale genomic rearrangements using aligned long‑read data. The software enables user‑guided exploration of breakpoint‑spanning reads, supporting accurate interpretation of complex events and filling a key gap in current structural variant analysis workflows. AVAILABILITY AND IMPLEMENTATION: Source code, binaries, user guide, and example aligned read data, are available on GitHub: https://github.com/msjimc/AgileStructure. An archived version is also available on Zenodo at https://doi.org/10.5281/zenodo.18610110.

Software↗

PubMed1982

Variant Ph1 translocations in CML and their incidence, including two cases with sequential lymphoid and myeloid crises.

A serial cytogenetic study of 110 cases of chronic myelogenous leukemia (CML) has been performed with G- and/or Q-banding techniques with the following results. (1) Seven out of the 110 cases were karyotypically normal. (2) A variant Ph1 translocation was observed in three cases. In one case, the leukemic cells contained two reciprocal translocations, i.e., a t(3;9) (q21;q34) and a t(17;22)(q21;q11); therefore, a Ph1 chromosome was masked by a translocation of the deleted material from the 17q onto the band q11 of the long arm of a chromosome No. 22. In the second case, a variant Ph1 translocation involved chromosomes No. 9, 20, and 22, resulting in a karyotype interpreted as 46,XX,t(9q+;20q+;22q-); in this rearrangement, one of the segments, i.e., 9q31 or 9q33, seemed to be interstitially deleted and inserted into the interstitial region (q11) of a chromosome No. 20 and the 22q11 leads to qter was translocated onto the 9q. This is the first case in which chromosome No. 20 was involved in a variant Ph1 translocation. In the third case, the karyotype of leukemic cells was interpreted as 46,XX,t(5;9;22)(q13;q34;q11). (3) The frequency of Ph1-negative CML and that of Ph1-positive CML with various types of Ph1 translocation from 15 studies reported as series of 25 or more cases, including the present study, have been tabulated. The incidence of a variant Ph1 translocation was 4.1% (42/1027 cases of Ph1-positive CML); of the 42, 13 were of a simple type and 29 of a complex type. (4) In one case of the present study, a masked Ph1 by a translocation of material onto the short arm of the 22q- was observed in the blastic crisis but not in the chronic phase. From the present study and a review of the published cases, it appears that the incidence of such a "masked" Ph1, which cannot be detected by conventional Giemsa staining, is less than 0.6% in CML cases. (5) The first and the second cases with a variant Ph1 translocation mentioned above developed a myeloid blastic crisis after the induction of remission of a lymphoid blastic crisis. For the present, it is unclear whether the occurrence of such blast cells in the two cases and the cytogenetic findings are coincidental. However, the evidence supports the notion of "lymphoid-myeloid" multipotentiality of certain leukemic cells.

Adult↗

PubMed1992

Morphology of identified preganglionic neurons in the dorsal motor nucleus of the vagus.

To determine the degree of variation of neuronal morphology both within and between the subnuclei of the dorsal motor nucleus of the vagus (dmnX), structural features of the preganglionic neurons of each of the five primary subnuclei in the rat dmnX were characterized quantitatively. Each of the columnar subnuclei was separately labeled by application of the retrograde tracer fast blue to its corresponding subdiaphragmatic vagal branch. Fixed brain slices of 100 microns thickness were then prepared in coronal, sagittal, and horizontal orientations. Next, randomly selected fast blue labeled neurons (n = 1,256) were injected with Lucifer yellow, drawn with camera lucida, and digitized. For each cell, three features of the perikaryon and twelve of the dendritic tree were measured. Dorsal motor nucleus neurons with up to eight primary dendrites, 30 dendritic segments, and seventh order dendritic branches were observed. Throughout the dmnX, the dendrites of preganglionic neurons were preferentially oriented in the horizontal plane. Consistent with an organizing role for the columnar subnuclei, most dendrites remained within their column of origin. However, between 5 and 30% of the neurons in each of the columns projected dendrites into adjacent dmnX subnuclei or other brainstem nuclei, including the nucleus of the solitary tract (NTS). The cyto- and dendroarchitectural analyses revealed systematic gradations in morphology, although they did not support the idea that the dmnX was composed of multiple distinct preganglionic types. The most parsimonious interpretation of the data is that dmnX motorneurons are variants of a single prototype, with dendrites varying widely in length and degree of ramification. The extent of an individual preganglionic neuron's dendritic field was predicted by three factors: the cell's rostrocaudal position within the dmnX, its location within a transverse plane (i.e., its coronal position within or ectopic to the dmnX), and its subnucleus of origin. Neurons at rostral and midlongitudinal levels of each column had more extensive dendritic arbors than those at caudal levels. Ectopic neurons had more extensive dendritic fields than similar cells in the corresponding columns; in fact, of all vagal preganglionic neurons, ectopics had the most extensive dendritic fields. Somata and dendrites of celiac column neurons were more extensive than those of hepatic and gastric column cells. These differential regional distributions of vagal preganglionics suggest that their structure and function are correlated.

Amidines↗

PubMed2025

Persistent gaps and errors in reference databases impede ecologically meaningful taxonomy assignments in 18S rRNA studies: a case study of terrestrial and marine nematodes.

In metabarcoding studies, Linnaean taxonomy assignments of Operational Taxonomic Units (OTUs) or Amplicon Sequence Variants (ASVs) underpin many downstream bioinformatics analyses and ecological interpretations of environmental DNA (eDNA) datasets. However, public molecular databases (i.e., SILVA, EUKARYOME, BOLD) for most microbial metazoan phyla (nematodes, tardigrades, kinorhynchs, etc.) are sparsely populated, negatively impacting our ability to assign ecologically meaningful taxonomy to these understudied groups. Additionally, the choice of bioinformatics parameters and computational algorithms can further impact the accuracy of eDNA taxonomy assignments. Here, we use two in-silico datasets to show that taxonomy assignments using the 18S rRNA gene can be dramatically improved by curating Linnaean taxonomy strings associated with each reference sequence and closing phylogenetic gaps by improving taxon sampling. Using free-living nematodes as a case study, we applied two commonly used taxonomy assignment algorithms (BLAST+ and the QIIME2 Naïve Bayes classifier) across six iterations of the SILVA 138 reference database to evaluate the precision and accuracy of taxonomy assignments. The BLAST+ top hit with a 90% sequence similarity cutoff often returned the highest percentage of correctly assigned taxonomy at the genus level, and the QIIME2 Naïve Bayes classifier performed similarly well when paired with a reference database containing corrected taxonomy strings. Our results highlight the urgent need for phylogenetically-informed expansions of public reference databases (encompassing both genomes and common gene markers), focused on poorly sampled lineages which are now robustly recovered via eDNA metabarcoding approaches. Additional taxonomy curation efforts should be applied to popular reference databases such as SILVA, and taxon sampling could be rapidly improved by more frequent incorporation of newly published GenBank sequences linked to genus and/or species level identifications.

18S rRNA metabarcoding↗

PubMed1997

Characteristics of nucleotide substitution in the hepatitis C virus genome: constraints on sequence change in coding regions at both ends of the genome.

Comparison of complete genome sequences for different variants of hepatitis C virus (HCV) reveals several different constraints on sequence change. Synonymous changes are suppressed in coding regions at both 5' and 3' ends of the genome. No evidence was found for the existence of alternative reading frames or for a lower mutation frequency in these regions. Instead, suppression may be due to constraints imposed by RNA secondary structures identified within the core and NS5b genes. Nonsynonymous substitutions are less frequent than synonymous ones except in the hypervariable region of E2 and, to a lesser extent, in E1, NS2, and NS5b. Transitions are more frequent than transversions, particularly at the third position of codons where the bias is 16:1. In addition, nucleotide substitutions may not occur symmetrically since there is a bias toward G or C at the third position of codons, while T left and right arrow C transitions were twice as frequent as A left and right arrow G transitions. These different biases do not affect the phylogenetic analysis of HCV variants but need to be taken into account in interpreting sequence change in longitudinal studies.

Base Sequence↗

PubMed2006

Genetic variants of parvovirus B19 identified in the United Kingdom: implications for diagnostic testing.

BACKGROUND: Discrepant results in diagnostic parvovirus B19 PCR assays have been observed with strains showing nucleotide sequence variation. OBJECTIVES AND STUDY DESIGN: To perform phylogenetic analysis on two parvovirus B19 strains that gave discrepant PCR results. RESULTS: One strain was found to be genotype 2; the second strain was genotype 3. CONCLUSIONS: Parvovirus B19 genotypes 2 and 3 strains were identified in diagnostic samples of UK origin following the investigation of discrepant PCR results. More structured investigations are needed to estimate the prevalence of these variants. In the meantime, diagnostic PCR results should be interpreted cautiously when they are at variance with serological testing. Manufacturers of PCR kits for the detection of B19 sequences will need to consider re-designing their primers.

Adult↗