bluuebunny/crossref_metadata_2025_split huggingface dataset:
The value of alloantibody detection in predicting response to HLA‐matched platelet transfusions
Authors: Levin Mark‐David , Kappers‐Klunne Mies , Sintnicolaas Kees , Holt Bronno van der , Van Vliet Huub H. D. M. , Löwenberg Bob , Van't Veer Mars B. 
Published: December 2003

SummaryAlloantibody tests demonstrate immunological causes of insufficient increments in random platelet transfusions. The value of a positive or negative test result in predicting the outcome of human leucocyte antigen (HLA)‐matched transfusions in patients refractory to leucodepleted random platelet transfusions has not been assessed. We retrospectively evaluated the outcome of the first HLA‐matched platelet transfusion in 72 patients with haematological diseases in two ways: first, the strategy according to which the patient was selected for HLA‐matched platelet transfusions was analysed. The strategies were: (i) results of alloantibody tests were not available, (ii) a positive alloantibody test, (iii) a negative alloantibody test. Secondly, the outcome of the first HLA‐matched transfusion was investigated relative to the results of alloantibody tests, irrespective of the decision strategy. No significant association was found between the decision strategy and the outcome of the first HLA‐matched platelet transfusion. Positive alloantibody tests, however, predicted a better outcome of the first HLA‐matched platelet transfusion (P = 0·04 and P = 0·03 after 1 and 16 h respectively). In patients refractory to random platelet transfusions, positive alloantibody tests predicted a better outcome of HLA‐matched platelet transfusions. Patients with negative alloantibody tests, however, may benefit from HLA‐matched platelet transfusions.
β+45 G → C: a novel silent β‐thalassaemia mutation, the first in the Kozak sequence
Authors: De Angioletti Maria , Lacerra Giuseppina , Sabato Vincenzo , Carestia Clementina 
Published: December 2003

SummaryA family from the Southeast of Italy was found to have a novel β‐globin mutant, β+45 G→C, with the features of a silent β‐thalassaemia mutation. It was asymptomatic in two heterozygotes, but its interaction with the severe thalassaemia mutation β‐IVS‐II‐654 C→T worsened the haematological and biosynthetic phenotype in two compound heterozygotes; moreover, another compound heterozygote, who was also heterozygote for the αααanti3·7, suffered from thalassaemia intermedia. The mutation was found associated in cis with the IVS‐II‐754 T→C substitution, which did not lead to abnormally spliced mRNA. Furthermore, the amount of β+45 mRNA was the same as the βA mRNA in the reticulocytes of the carriers. In vitro transcription/translation experiments demonstrated that the β+45 G→C decreased the efficiency of translation of the β‐globin chain by about 30%: this slight impairment was consistent with the observed clinical phenotype. The β+45 G→C is the first mutation found in the Kozak sequence (GACACCATGG) of the β‐globin gene and the first one at the position ‐6 upstream the ATG. The Kozak consensus sequence plays a major role in the initiation of translation process. The present finding supports the hypothesis that the G in position ‐6 is important in this process.
Filgrastim‐induced stem cell mobilization in chronic myeloid leukaemia patients during imatinib therapy: safety, feasibility and evidence for an efficient in vivo purging
Authors: Kreuzer Karl‐Anton , Klühs Christine , Baskaynak Gökben , Movassaghi Kamran , Dörken Bernd , le Coutre Philipp 
Published: December 2003

SummaryTherapy with imatinib mesylate is limited by cellular resistance in chronic myeloid leukaemia (CML). Further, the limited availability of matching stem cell donors or an unfavourable risk profile for allogeneic stem cell transplantation (SCT) reduces the number of therapeutic options in a number of patients. To assess the possibility of stem cell mobilization (SCM) during imatinib therapy we performed granulocyte colony‐stimulating factor (filgrastim)‐induced SCM and subsequent aphaeresis in 15 chronic phase and three accelerated phase CML patients. Aphaeresis was successful in 13 patients (72%) (≥2·0 × 106 CD34+ cells/kg body weight) and five (28%) harvests could be obtained, which were negative for BCR/ABL mRNA as assessed by nested‐reverse transcription polymerase chain reaction (RT‐PCR). All harvests, except one, were negative after first round RT‐PCR, implicating a low level of CML cell contamination. There was no significant change in peripheral BCR/ABL transcript load after SCM as assessed by quantitative real‐time RT‐PCR. Fifteen patients remained stable in complete cytogenetic remission (CCR) during a median observation period of 9·3 months. One patient achieved a molecular remission shortly after SCM. Another patient who exhibited rising BCR/ABL mRNA levels before SCM achieved CCR after autologous SCT with the generated harvest. One patient with a Philadelphia chromosome‐negative, BCR/ABL‐positive CML showed a cytogenetic relapse 6 months after SCM. We conclude that filgrastim‐induced CD34+ cell aphaeresis under simultaneous imatinib medication is safe and feasible in CML patients. Additionally, we found evidence that this procedure could generate stem cell harvests that exhibit non‐detectable levels of BCR/ABL mRNA.
A thalassaemia array for Southeast Asia
Authors: Chan Kaimin , Wong Man Sim , Chan T. K. , Chan Vivian 
Published: December 2003

SummaryThe α and β thalassaemias are the commonest genetic disorders worldwide. The homozygous state is associated with high morbidity and mortality, thus screening of at‐risk pregnancies and prenatal testing are strongly advocated. A thalassaemia (thal) array has been designed using allele‐specific arrayed primer extension (AS‐APEX) for the simultaneous analysis of 15 non‐deletion α‐gene defects and 23 β‐gene mutations commonly found in southeast Asian countries, where thalassaemias are highly prevalent. This overcomes the problem of using multiple reverse dot blot analysis. The array showed 100% sensitivity and specificity in the detection of 120 β‐thal mutants and 35 non‐deletion α‐thal mutants. It is robust enough to be produced in a single place and shipped to other laboratories for use. The production cost of the array is low, each slide can be used for three different test samples and is therefore amenable to large scale antenatal screening in southeast Asian countries.
Association of T‐786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease
Authors: Sharan K. , Surrey S. , Ballas S. , Borowski M. , Devoto M. , Wang K.‐F. , Sandler E. , Keller M. 
Published: December 2003

SummaryAcute chest syndrome (ACS) is a life‐threatening complication of sickle cell disease (SCD). A retrospective study was performed to evaluate the role of endothelial nitric oxide synthase (eNOS) gene polymorphisms (E298D and T‐786C) in African–American SCD patients. The D298 allele showed no association; the C‐786 allele showed a statistically significant association (P = 0·0061) in female ACS cases. Multiple logistic regression analysis showed that relative risk of ACS was 8·695 (P = 0·0076, 95% confidence interval 1·761–42·920) for female carriers of C‐786. eNOS T‐786C is a gender‐specific genetic modifier that is associated with increased susceptibility to ACS in female SCD patients.
Patterns of population subdivision and gene flow in the ant Nothomyrmecia macrops reflected in microsatellite and mitochondrial DNA markers
Authors: Sanetra M. , Crozier R. H. 
Published: December 2003

AbstractThe Australian endemic ant Nothomyrmecia macrops is renowned for having retained a large proportion of ‘primitive’ morphological and behavioural characters. Another less studied peculiarity of this species is the production of short‐winged (brachypterous) female sexuals, which presumably are poor dispersers. The males, in contrast, bear a full set of normally developed wings and thus may disperse widely. We investigated patterns of genetic differentiation within and among three distantly separated populations in South Australia using nine polymorphic microsatellite loci and four regions of mitochondrial DNA (COI, COII, Cytb, lrRNA). We sampled eight subpopulations, one in the Lake Gilles CP, two near Penong and five around Poochera where distances ranged from 360 km to sites separated by 2–10 km. Only little differentiation was found at the local scale (within the assumed dispersal distance of males) using nuclear markers, whereas the three distant locations were moderately differentiated (FST = 0.06). Mitochondrial DNA genetic structure was much more pronounced on all scales (φST = 0.98), with regular differences in both haplotype composition and frequency even occurring among closely located sites. This lack of congruence between nuclear and mitochondrial markers strongly suggests limited female dispersal and male‐biased gene flow among populations. As to the conservation status of the species there is no evidence for severe population reductions in the recent past, which would have left populations genetically depauperate.
Identification of reproductively isolated lineages of Amur grayling (Thymallus grubii Dybowski 1869): concordance between phenotypic and genetic variation
Authors: Froufe E. , Knizhin I. , Koskinen M. T. , Primmer C. R. , Weiss S. 
Published: December 2003

AbstractWe analysed variation at maternally (mitochondrial DNA control region sequences) and bi‐parentally (10 microsatellites) inherited genetic markers, as well as across 12 meristic characters in 7 populations of Amur grayling, Thymallus grubii, from eastern Siberia. All three data sets were concordant in supporting the existence of three diagnosable, reciprocally monophyletic, and most probably reproductively isolated, lineages of grayling within the Amur drainage. There was a significant correlation between genetic and phenotypic divergence, both within and among lineages. Two phenotypically distinct forms (with and without an orange spot on the posterior portion of the dorsal fin), found in sympatry in the lower Amur, most likely result from secondary contact, as they demonstrate 4.6% sequence divergence at the mitochondrial DNA control region. This divergence, together with the existence of at least one nearby population of orange spot grayling outside the Amur drainage (0.8% divergence) underscore the palaeo‐hydrological complexity of the system, which presumably promoted genetic divergence in a shifting allopatric framework throughout the Pleistocene. Grayling from the upper Amur, corresponding to the type locality for the species, formed a sister group (1.4–1.6% divergent) to the orange spot lineage perhaps diverging in the early Pleistocene (1.4–1.6 Ma).
Population genetic structure of male black grouse (Tetrao tetrix L.) in fragmented vs. continuous landscapes
Authors: Caizergues Alain , Rätti Osmo , Helle Pekka , Rotelli Luca , Ellison Laurence , Rasplus Jean‐Yves 
Published: December 2003

AbstractWe investigated the association of habitat fragmentation with genetic structure of male black grouse Tetrao tetrix. Using 14 microsatellites, we compared the genetic differentiation of males among nine localities in continuous lowland habitats in Finland to the genetic differentiation among 14 localities in fragmented habitats in the Alps (France, Switzerland and Italy). In both areas, we found significant genetic differentiation. However, the average differentiation, measured as θ, was more than three times higher in the Alps than in Finland. The greater differentiation found in the Alps is probably due to the presence of mountain ridges rising above natural habitats of the species, which form barriers to gene flow, and to a higher influence of genetic drift resulting from lower effective sizes in highly fragmented habitats. The detection of isolation by distance in the Alps suggests that gene flow among populations does occur. The genetic variability measured as gene diversity HE and allelic richness A was lower in the Alps than in Finland. This could result from the higher fragmentation and/or from the fact that populations in the Alps are isolated from the main species range and have a lower effective size than in Finland. This study suggests that habitat fragmentation can affect genetic structure of avian species with relatively high dispersal propensities.
Hybrid origin of a cichlid population in Lake Malawi: implications for genetic variation and species diversity
Authors: Smith Peter F. , Konings Ad , Kornfield Irv 
Published: December 2003

AbstractThe importance of species recognition to taxonomic diversity among Lake Malawi cichlids has been frequently discussed. Hybridization — the apparent breakdown of species recognition — has been observed sporadically among cichlids and has been viewed as both a constructive and a destructive force with respect to species diversity. Here we provide genetic evidence of a natural hybrid cichlid population with a unique colour phenotype and elevated levels of genetic variation. We discuss the potential evolutionary consequences of interspecific hybridization in Lake Malawi cichlids and propose that the role of hybridization in generating both genetic variability and species diversity of Lake Malawi cichlids warrants further consideration.
Long‐term isolation and recent range expansion from glacial refugia revealed for the endemic springtail Gomphiocephalus hodgsoni from Victoria Land, Antarctica
Authors: Stevens Mark I. , Hogg Ian D. 
Published: December 2003

AbstractWe examined the phylogeography of the endemic Antarctic collembolan Gomphiocephalus hodgsoni using allozymes and mitochondrial DNA (mtDNA; COI) to determine if potentially limited dispersal and long‐term habitat fragmentation have promoted regional genetic differentiation. Allozyme analyses showed that differentiation among 21 populations within the Ross Dependency was high (FST = 0.55) with two main groups each representing a distinct geographical region: (1) Ross Island and Beaufort Island; and (2) all continental sites. Ross Island populations showed low levels of differentiation (FST = 0.05) and no correlation with geographical distance, suggesting their derivation from a single glacial refuge. By contrast, continental regions revealed moderate levels of differentiation (FST = 0.27) and a strong correlation with geographical distance, indicating a much older history with several refugia likely. Two sympatric allozyme genotypes were found at three continental sites from Taylor Valley and were congruent with two mtDNA haplotypes, implying nonrandom breeding groups. Although haplotype sharing between one Ross Island site (Cape Bird) and one continental site (Granite Harbour) was identified, the clades showed mostly fragmented allopatric distributions. The extensive Pleistocene glaciations, in conjunction with limited dispersal opportunities, appear to have promoted isolation and divergence among the fragmented habitats. Furthermore, the McMurdo Sound appears to be an effective isolating barrier to dispersal. However, we suggest that the unaided dispersal capacity of G. hodgsoni is unlikely to account for the limited mixing of haplotypes across the McMurdo Sound and recent human‐ or bird‐mediated dispersal is highly probable.
Genetic markers for analysing symbiotic relationships and lateral gene transfer in Neotropical bradyrhizobia
Authors: Parker M. A. 
Published: December 2003

AbstractAssays with seven sets of lineage‐specific polymerase chain reaction (PCR) primers in the ribosomal RNA region were performed on 96 isolates of the Bradyrhizobium sp. nodule bacteria from Barro Colorado Island, Panama. The isolates were derived from 10 legume host species in six genera (Centrosema, Desmodium, Dioclea, Inga, Machaerium and Vigna). The PCR assays differentiated 13 composite genotypes, and sequencing of a 5′ 23S rRNA region indicated that all but one had a unique sequence. The most common genotype (seen in 44% of the isolates) was associated with all six legume host genera, and had a marker profile and 5′ 23S rRNA sequence identical to a Bradyrhizobium lineage associated with several other legume genera in Panama and Costa Rica. Another 46% of the isolates had genotypes found to be associated with two to three legume genera. Bradyrhizobium strains with low host specificity thus appear to be prevalent in this tropical forest. Based on 16S rRNA and 5′ 23S rRNA markers, most of the isolates had clear affinities to either B. japonicum or B. elkanii. However, one strain (Cp5–3) with a B. elkanii‐type 16S rRNA marker had a 5′ 23S rRNA region resembling B. japonicum. A partition homogeneity test indicated that relationships of strain Cp5–3 were significantly discordant for 16S rRNA vs. 23S rRNA sequences, and a runs test detected significant mosaic structure across the rRNA region. Lateral gene transfer events have therefore played a role in the evolution of symbiotic bacteria in this environment.
Genetic population structure of the white sifaka (Propithecus verreauxi verreauxi) at Beza Mahafaly Special Reserve, southwest Madagascar (1992–2001)
Authors: Lawler Richard R. , Richard Alison F. , Riley Margaret A. 
Published: December 2003

AbstractGene flow within and between social groups is contingent on behaviourally mediated patterns of mating and dispersal. To understand how these patterns affect the genetic structure of primate populations, long‐term data are required. In this study, we analyse 10 years of demographic and genetic data from a wild lemur population (Propithecus verreauxi verreauxi) at Beza Mahafaly Special Reserve, southwest Madagascar. Our goal is to specify how patterns of mating and dispersal determine kinship and genetic diversity among animals in the population. Specifically, we use microsatellite, parentage, and census data to obtain estimates of genetic subdivision (FST), within group homozygosity (FIS), and relatedness (r) within and among social groups in the population. We analyse different classes of individuals (i.e. adults, offspring, males, females) separately in order to discern which classes most strongly influence aspects of population structure. Microsatellite data reveal that, across years, offspring are consistently more heterozygous than expected within social groups (FIS mean = −0.068) while adults show both positive and negative deviations from expected genotypic frequencies within groups (FIS mean = 0.003). Offspring cohorts are more genetically subdivided than adults (FST mean = 0.108 vs. 0.052) and adult females are more genetically subdivided than adult males (FST mean = 0.098 vs. 0.046). As the proportion of females in social groups increases, the proportion of offspring sired by resident males decreases. Offspring are characterized by a heterozygote excess as resident males (vs. nonresident males) sire the majority of offspring within groups. We link these genetic data to patterns of female philopatry, male dispersal, exogamy, and offspring sex‐ratio. Overall, these data reveal how mating and dispersal tactics influence the genetic population structure in this species.
Phylogeography of the vairone (Leuciscus souffia, Risso 1826) in Central Europe
Authors: Salzburger Walter , Brandstätter Anita , Gilles ANDRÉ , Parson Walther , Hempel Melanie , Sturmbauer Christian , Meyer Axel 
Published: December 2003

AbstractThe vairone Leuciscus souffia is a cyprinid fish that inhabits river systems in and around the Alps. The complete mitochondrial DNA control region (945 bp) was sequenced in 295 vairone from 22 populations in Central Europe. A total of 51 haplotypes were identified with a maximum pairwise distance between haplotypes of 5.6%. Phylogenetic analyses revealed two major clades in L. souffia, an ‘Italian’ clade, and an ‘Alpine’ clade. Two hybrid zones exist, in the Mediterranean Alps and in the Soca basin. The position of the sister species of L. souffia, L. turskyi, to the ‘Alpine’ and the ‘Italian’ clade could not be resolved unambiguously. However, a linearized tree analysis indicated that L. turskyi represents a third lineage, that originated at the same time as the ‘Alpine’ and the ‘Italian’ clades of L. souffia. In the ‘Alpine’ clade two groups were resolved, a subclade with haplotypes from the Rhône and Var basins and a cluster with haplotypes from the Danube and Rhine systems. Our data suggest a long history of the vairone in Central Europe, predating Pleistocene glacial cycles. Two main refugia during glaciations must have existed, one in Italy and another one most probably in the Danube system. However, age estimates based on molecular clock calibrations suggest the survival of ‘Alpine’ haplotypes in several drainages during the last glaciation cycles. The Rhine system was only recently colonized.
Molecular approach to aquatic environmental bioreporting: differential response to environmental inducers of cytochrome P450 monooxygenase genes in the detritivorous subalpine planktonic Crustacea, Daphnia pulex
Authors: David P. , Dauphin‐Villemant C. , Mesneau A. , Meyran J. C. 
Published: December 2003

AbstractIn order to examine the usefulness of detoxifying genes as molecular markers in different chemical environments, isolation of cytochrome P450 genes (CYPs) belonging to the CYP4 family was performed in different samples from two subalpine populations of Daphnia pulex. The use of degenerate primers allowed us to isolate seven cDNAs. Four of them were assigned to the CYP4C subfamily, and were closely related to previously isolated crustacean CYP4s while the others were assigned to new CYP4AN and CYP4AP subfamilies. Expression studies, using semiquantitative polymerase chain reaction (PCR) followed by Southern blot hybridization with specific probes revealed differences in CYP4C32 and CYP4AP1 expressions between the two populations, which differ in the polyphenol richness of the vegetation surrounding their aquatic habitat. Further exposure to toxic dietary polyphenols showed different CYP induction patterns. Taken together, these preliminary results suggest a possible involvement of CYP4s in the ecological differentiation of subalpine D. pulex populations related to the polyphenol richness of the environmental vegetation. CYP4s may thus be considered as possible molecular markers in aquatic environmental bioreporting.
Local genetic structure in a white‐bearded manakin population
Authors: Höglund Jacob , Shorey Lisa 
Published: December 2003

AbstractLocal genetic structure was studied in lekking white‐bearded manakins in a study area on northern Trinidad, West Indies. The study population consisted of nine leks, at which a total of 238 birds were caught. By genotyping the individuals at eight polymorphic microsatellite loci we inferred some males on leks to be related (r = 0.25) as we found an average number of 14.8 half‐sib relationships and two full‐sib relationships per lek. We found that the sampled birds belonged to one genetic population that was slightly inbred (FISandFIT = 0.02). Kinship coefficients decreased with increasing geographical distance, indicating that related birds displayed at the same or nearby leks. However, leks did not consist of only one family group because the average genetic distance (aij) between males within leks was higher than when comparing males on leks within close proximity. These patterns suggest limited male dispersal, that some type of kin recognition process between individuals may exist in this species and that males on leks may be more likely to establish themselves as territory‐holding birds if a relative is already present.