Search results for " length polymorphism"
showing 10 items of 177 documents
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany
1997
Gaucher disease is the most common lysosomal storage disease with a high prevalence in the Ashkenazi Jewish population but it is also present in other populations. The presence of eight mutations (1226G, 1448C, IVS2+1. 84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glucocerebrosidase gene was investigated in 25 unrelated non-Jewish patients with Gaucher's disease in Germany. In the Jewish population, three of these mutations account for more than 90% of all mutated alleles. In addition, relatives of two patients were included in our study. Restriction fragment length polymorphism analysis and sequencing of PCR products obtained from DNA of peripheral blood leukoc…
Quantitative and qualitative analysis of DNA extracted from postmortem muscle tissues
1990
DNA extracted from 33 postmortem muscle specimens was analyzed using MZ 1.3, a hypervariable minisatellite probe, as well as locus-specific minisatellite probes (g3, MS1 and MS43). After storage at -25 degrees C for 10 months, DNA from all the samples was partially (approximately 21% of total DNA) degraded even when autopsy was performed 1 day postmortem. However, more than 90% of DNA samples up to at least 3 days postmortem were suitable to obtain good restriction fragment length polymorphism (RFLP) patterns. When small strips of specimen were stored for 8 days at room temperature in moist chambers, approximately 42% of total DNA was degraded. Only 30% of these DNA samples still showed goo…
IL 10.G microsatellites mark promoter haplotypes associated with protection against the development of reactive arthritis in Finnish patients.
2001
Objective To investigate the association of microsatellites and single-nucleotide promoter polymorphisms (SNPs) in the gene for the cytokine interleukin-10 (IL-10) with susceptibility to and outcome of reactive arthritis (ReA). Methods From genomic DNA, IL-10 microsatellites G and R and IL-10 promoter polymorphisms at positions −1087 and −524 were typed by polymerase chain reaction, automated fragment length analysis, and restriction fragment digestion in 85 Finnish patients with ReA and 62 HLA–B27–positive Finnish controls. ReA patients had been followed up for 20 years. Genotypes and haplotypes of IL-10 were correlated with distinct features of the disease course, such as triggering agent…
Validating a Rapid Method for Detecting Common Polymorphisms in the APOA5 Gene by Melting Curve Analysis Using LightTyper
2005
The recently identified apolipoprotein A-V gene (APOA5) has been shown to play an important role in hypertriglyceridemia (1). Genetic variation in APOA5 has been consistently associated with plasma triglyceride concentrations in several studies (2)(3)(4). Moreover, some studies have demonstrated additional associations with lipoprotein subclasses, remnant-like particles, and cardiovascular disease risk (4)(5)(6). Several single-nucleotide polymorphisms (SNPs) in the human APOA5 gene have been detected with differing frequencies depending on the population analyzed (7)(8), and Klos et al.(7) have also suggested context-dependent associations in different populations. Overall, 5 common SNPs, …
Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE).
1993
SUMMARY A complete functional deficiency of Clq is described in a patient suffering from SLE. From reduced plasma C1 activity of the parents a hereditary trait was assumed. The defective C1q molecule was haemolytically inactive, did not bind to immune complexes, and was not recognized by the monocyte C1q receptor. C1 activity in the patient's serum could be restored by the addition of purified C1q. Analysis by gelfiltration and ultracentrifugation experiments revealed an immunoreactive molecule of about 150 kD mol. wt, corresponding to one structural subunit of the C1q macromolccule, containing two A chain-B chain dimers and a C-C chain dimer. Applying Southern blot analysis with cDNA clone…
Reciprocal hybridization at different times between Senecio flavus and Senecio glaucus gave rise to two polyploid species in north Africa and south‐w…
2006
Summary • The analysis of hybrid plant taxa using molecular methods has considerably extended understanding of possible pathways of hybrid evolution. • Here, we investigated the origin of the tetraploid Senecio mohavensis ssp. breviflorus and the hexaploid Senecio hoggariensis by sequencing of nuclear and chloroplast DNA, and by analysis of the distribution of taxon-specific amplified fragment length polymorphism (AFLP) fragments. • Both taxa originated from hybridization between the diploid Senecio flavus and Senecio glaucus. Whereas S. glaucus was the female parent in the origin of S. mohavensis ssp. breviflorus, S. flavus was the female parent in the origin of S. hoggariensis. • The dist…
Effect of single-species and mixed-species leaf leachate on bacterial communities in biofilms
2009
Dissolved organic matter in the form of leaf leachate represents an important carbon and energy source in many lotic ecosystems. In this study, we investigated utilization of mono-specific and mixed-species leaf leachate and impacts on biofilm bacterial community structure. Ceramic tiles were incubated in a Northeast Ohio stream to allow for biofilm development and then exposed in the laboratory to glucose or leachate from: sugar maple (Acer saccharum), pin oak (Quercus palustris), maple oak, American beech (Fagus grandifolia), witch hazel (Hamamelis virginiana), or beech witch hazel. Bacterial responses to these amendments were compared to un-amended controls based on fluorescent in situ h…
Usefulness of omp1 restriction mapping for avian Chlamydia psittaci isolate differentiation
1995
Abstract Sixty-five avian Chlamydia psittaci isolates collected worldwide, including 27 previously characterized reference strains, were analysed by restriction mapping of the major outer membrane protein gene ( omp1 ) obtained after DMA amplification by PCR. They were compared to 2 ruminant isolates, a feline pneumonitis and a guinea pig inclusion conjunctivitis (GPIC) isolate. According to their omp1 restriction patterns, avian strains were heterogeneous in that they exhibited 6 and 4 distinct patterns using Alu I and Mbo II restriction enzymes, respectively, thus defining 7 groups. However, 84% of the studied strains belonged to groups 1 to 4, which share a specific fragment triplet of 4…
Long-term impact of 19 years' farmyard manure or sewage sludge application on the structure, diversity and density of the protocatechuate-degrading b…
2012
International audience; Impact of long-term biosolids application on soil-living micro-organisms key players of ecosystemic services is scarcely reported. Here, the impact of the 19 year-long application of farmyard manure (FM) and sewage sludge (SS) organic fertilisation regimes on the protocatechuate-degrading bacterial (pca) community was estimated by comparison to a mineral fertilisation regime (U). The structure, diversity and density of the pca community were determined using pcaH, a gene encoding the protocatechuate 3,4-dioxygenase. Ten years after the last application, the structure of the pca community in soils amended with 55100 (100 t/ha/2 years) and to a lesser extent with FM (1…
Isolation and toxicity of Bacillus thuringiensis from potato-growing areas in Bolivia
2004
Bacillus thuringiensis was isolated from 116 samples collected in high altitude potato-growing areas in Bolivia. In these regions, main potato pests are the potato tuberworm Phthorimaea operculella, and the Andean weevils Premnotrypes latithorax and Rhigopsidius tucumanus. B. thuringiensis was found in 60% of the samples. The main percentage of samples with B. thuringiensis was found in larvae of R. tucumanus (78%). Bioassays were performed with 112 isolates. None resulted toxic to either larvae or adults of the two Andean weevils. However, 18 isolates from this study showed more toxicity against the beet armyworm Spodoptera exigua than the standard strain var. kurstaki isolated from DELFIN…