Skip header and navigation

Refine By

1243 records – page 1 of 125.

A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
Less detail

16S rDNA sequencing of valve tissue improves microbiological diagnosis in surgically treated patients with infective endocarditis.

https://arctichealth.org/en/permalink/ahliterature134307
Source
J Infect. 2011 Jun;62(6):472-8
Publication Type
Article
Date
Jun-2011
Author
Martin Vondracek
Ulrik Sartipy
Ewa Aufwerber
Inger Julander
Dan Lindblom
Katarina Westling
Author Affiliation
Department of Clinical Microbiology, Karolinska University Hospital and Department of Clinical Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Source
J Infect. 2011 Jun;62(6):472-8
Date
Jun-2011
Language
English
Publication Type
Article
Keywords
Adult
Aged
Bacteria - classification - genetics - isolation & purification
Bacteriological Techniques - methods
DNA, Bacterial - chemistry - genetics
DNA, Ribosomal - chemistry - genetics
Endocarditis - diagnosis - microbiology - surgery
Female
Heart Valves - microbiology
Humans
Male
Middle Aged
RNA, Ribosomal, 16S - genetics
Sensitivity and specificity
Sequence Analysis, DNA - methods
Sweden
Abstract
The aim was to evaluate 16S rDNA sequencing in heart valves in patients with infective endocarditis undergoing surgery.
Fifty-seven patients with infective endocarditis were examined in this prospective study by analysing heart valves with 16S rDNA sequencing and culturing methods and comparing the results to blood cultures. As controls, heart valves from 61 patients without any signs of endocarditis were examined.
All together 77% of the endocarditis patients were positive for 16S rDNA, 84% had positive blood cultures and 23% had positive cultures from heart valves, whereas only 16% of the cultures from heart valves were concordant with results from blood cultures or 16S rDNA. Concordant results between 16S rDNA sequencing and blood cultures were found in 75% patients. All controls were negative for 16S rDNA. In 4 out of 9 patients with negative blood cultures, the aetiology was established by 16S rDNA alone, i.e. viridans group streptococci.
In this Swedish study, 16S rDNA sequencing of valve material was shown to be a valuable addition in blood culture-negative cases. The value of heart valve culture was low. Molecular diagnosis using 16S rDNA sequencing should be recommended in patients undergoing valve replacement for infective endocarditis.
PubMed ID
21601285 View in PubMed
Less detail

The -112G>A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves' disease in subsets of patients with elevated levels of immunoglobulin E.

https://arctichealth.org/en/permalink/ahliterature138513
Source
J Appl Genet. 2011 May;52(2):201-7
Publication Type
Article
Date
May-2011
Author
Dimitry A Chistiakov
Natalia V Voronova
Rust I Turakulov
Kirill V Savost'anov
Author Affiliation
Department of Molecular Diagnostics, National Research Center GosNIIgenetika, 1st Dorozhny Proezd 1, 117545, Moscow, Russia. dimitry.chistiakov@lycos.com
Source
J Appl Genet. 2011 May;52(2):201-7
Date
May-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Asthma - genetics
Case-Control Studies
Female
Genetic Association Studies
Genetic markers
Genetic Predisposition to Disease
Genotype
Graves Disease - epidemiology - genetics
Humans
Hypersensitivity - genetics
Immunoglobulin E - blood
Male
Odds Ratio
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Russia - epidemiology
Secretoglobins
Sequence Analysis, DNA
Uteroglobin - blood - genetics
Young Adult
Abstract
The human secretoglobin 3A2 (SCGB3A2) gene encoding secretory uteroglobin-related protein 1 (UGRP1) resides on the chromosome region 5q31-33 that harbors a susceptibility locus to several autoimmune and inflammatory diseases, including asthma and Graves' disease (GD). Recently, association between the marker rs1368408 (-112G?>A), located in the promoter region of the SCGB3A2 gene, and susceptibility to GD was found in Chinese and UK Caucasians. The study aim was to evaluate whether this polymorphism confers GD susceptibility in a large population cohort comprising 1,474 Russian GD patients and 1,619 controls. The marker rs1368408 was studied using a TaqMan allele discrimination assay. Serum levels of UGRP1 and immunoglobulin E (IgE) were assessed using enzyme-linked immunosorbent assay (ELISA) analyses. Association between the allele A of SCGB3A2 and a higher risk of GD (odds ratio [OR] = 1.33, P = 2.9 × 10(-5)) was shown. Both affected and non-affected carriers of the higher risk genotype A/A had significantly decreased levels of serum UGRP1 compared to the subjects homozygous for G/G (93 ± 37 pg/ml vs. 132 ± 45 pg/ml, P = 0.0011 for GD patients; 77 ± 28 pg/ml vs. 119 ± 33 pg/ml, P = 0.0019 for controls). Serum IgE levels were significantly higher in non-affected subjects homozygous for A/A compared to control individuals homozygous for G/G (153 ± 46 IU/ml vs. 122 ± 40 IU/ml, P = 0.0095). Our data suggest that the carriage of the SCGB3A2 -112A/A variant increases the risk for GD in subsets of patients with elevated levels of IgE, a hallmark of allergic asthma. Therefore, the SCGB3A2 -112G?>A polymorphism may be considered as a likely marker linking susceptibility to allergy/asthma and GD on chromosome 5q31-33.
PubMed ID
21170691 View in PubMed
Less detail

164Ile allele in the beta2-Adrenergic receptor gene is associated with risk of elevated blood pressure in women. The Copenhagen City Heart Study.

https://arctichealth.org/en/permalink/ahliterature173671
Source
Pharmacogenet Genomics. 2005 Sep;15(9):633-45
Publication Type
Article
Date
Sep-2005
Author
Amar A Sethi
Anne Tybjaerg-Hansen
Gorm B Jensen
Børge G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev University Hospital, Herlev, Denmark.
Source
Pharmacogenet Genomics. 2005 Sep;15(9):633-45
Date
Sep-2005
Language
English
Publication Type
Article
Keywords
Alleles
Arginine - chemistry
Blood pressure
Body mass index
Denmark
Female
Gene Expression Regulation
Gene Frequency
Genetic Variation
Genotype
Glutamic Acid - chemistry
Glutamine - chemistry
Glycine - chemistry
Haplotypes
Heart rate
Heterozygote
Humans
Hypertension - genetics
Isoleucine - chemistry
Linkage Disequilibrium
Male
Receptors, Adrenergic, beta-2 - genetics
Risk
Risk factors
Sequence Analysis, DNA
Sex Factors
Time Factors
Abstract
Since beta2-adrenergic receptors are important regulators of blood pressure, genetic variation in this receptor could explain risk of elevated blood pressure in selected individuals. We tested the hypothesis that Gly16Arg, Gln27Glu, and Thr164Ile in the beta2-adrenergic receptor gene associated with elevated blood pressure.
We genotyped 9185 individuals from the adult Danish general population.
Allele frequencies of 16Arg, 27Glu, and 164Ile were 0.38, 0.44, and 0.01, respectively. Among women never treated with antihypertensive medication those heterozygous for Thr164Ile versus non-carriers had increased diastolic blood pressure (P=0.02). Women heterozygous for Thr164Ile versus non-carriers had an odds ratio for elevated blood pressure of 1.93 (95% CI: 1.30-2.86). Finally, women double heterozygous for Thr164Ile and Gln27Glu or Gly16Arg versus non-carriers at all 3 loci had an odds ratio for elevated blood pressure of 2.49 (1.28-4.85) or 3.19 (1.46-6.97). In men, blood pressure was not influenced by this genetic variation.
In women Thr164Ile heterozygosity is associated with increased diastolic blood pressure, and represent a risk factor for elevated blood pressure in women in the general population. This was most pronounced in those women also heterozygous for Gln27Glu or Gly16Arg.
PubMed ID
16041242 View in PubMed
Less detail

Abrupt changes in the composition and function of fungal communities along an environmental gradient in the high Arctic.

https://arctichealth.org/en/permalink/ahliterature289622
Source
Mol Ecol. 2017 Sep; 26(18):4798-4810
Publication Type
Journal Article
Date
Sep-2017
Author
Oriol Grau
József Geml
Aaron Pérez-Haase
Josep M Ninot
Tatiana A Semenova-Nelsen
Josep Peñuelas
Author Affiliation
CSIC, Global Ecology Unit, CREAF-CSIC-UAB, Cerdanyola del Vallès, Catalonia, Spain.
Source
Mol Ecol. 2017 Sep; 26(18):4798-4810
Date
Sep-2017
Language
English
Publication Type
Journal Article
Keywords
Arctic Regions
DNA Barcoding, Taxonomic
DNA, Fungal - genetics
Ecosystem
Fungi - classification
Greenland
Mycobiome
Sequence Analysis, DNA
Soil Microbiology
Abstract
Fungi play a key role in soil-plant interactions, nutrient cycling and carbon flow and are essential for the functioning of arctic terrestrial ecosystems. Some studies have shown that the composition of fungal communities is highly sensitive to variations in environmental conditions, but little is known about how the conditions control the role of fungal communities (i.e., their ecosystem function). We used DNA metabarcoding to compare taxonomic and functional composition of fungal communities along a gradient of environmental severity in Northeast Greenland. We analysed soil samples from fell fields, heaths and snowbeds, three habitats with very contrasting abiotic conditions. We also assessed within-habitat differences by comparing three widespread microhabitats (patches with high cover of Dryas, Salix, or bare soil). The data suggest that, along the sampled mesotopographic gradient, the greatest differences in both fungal richness and community composition are observed amongst habitats, while the effect of microhabitat is weaker, although still significant. Furthermore, we found that richness and community composition of fungi are shaped primarily by abiotic factors and to a lesser, though still significant extent, by floristic composition. Along this mesotopographic gradient, environmental severity is strongly correlated with richness in all fungal functional groups: positively in saprotrophic, pathogenic and lichenised fungi, and negatively in ectomycorrhizal and root endophytic fungi. Our results suggest complex interactions amongst functional groups, possibly due to nutrient limitation or competitive exclusion, with potential implications on soil carbon stocks. These findings are important in the light of the environmental changes predicted for the Arctic.
PubMed ID
28664999 View in PubMed
Less detail

Abrupt changes in the composition and function of fungal communities along an environmental gradient in the high Arctic.

https://arctichealth.org/en/permalink/ahliterature289464
Source
Mol Ecol. 2017 Sep; 26(18):4798-4810
Publication Type
Journal Article
Date
Sep-2017
Author
Oriol Grau
József Geml
Aaron Pérez-Haase
Josep M Ninot
Tatiana A Semenova-Nelsen
Josep Peñuelas
Author Affiliation
CSIC, Global Ecology Unit, CREAF-CSIC-UAB, Cerdanyola del Vallès, Catalonia, Spain.
Source
Mol Ecol. 2017 Sep; 26(18):4798-4810
Date
Sep-2017
Language
English
Publication Type
Journal Article
Keywords
Arctic Regions
DNA Barcoding, Taxonomic
DNA, Fungal - genetics
Ecosystem
Fungi - classification
Greenland
Mycobiome
Sequence Analysis, DNA
Soil Microbiology
Abstract
Fungi play a key role in soil-plant interactions, nutrient cycling and carbon flow and are essential for the functioning of arctic terrestrial ecosystems. Some studies have shown that the composition of fungal communities is highly sensitive to variations in environmental conditions, but little is known about how the conditions control the role of fungal communities (i.e., their ecosystem function). We used DNA metabarcoding to compare taxonomic and functional composition of fungal communities along a gradient of environmental severity in Northeast Greenland. We analysed soil samples from fell fields, heaths and snowbeds, three habitats with very contrasting abiotic conditions. We also assessed within-habitat differences by comparing three widespread microhabitats (patches with high cover of Dryas, Salix, or bare soil). The data suggest that, along the sampled mesotopographic gradient, the greatest differences in both fungal richness and community composition are observed amongst habitats, while the effect of microhabitat is weaker, although still significant. Furthermore, we found that richness and community composition of fungi are shaped primarily by abiotic factors and to a lesser, though still significant extent, by floristic composition. Along this mesotopographic gradient, environmental severity is strongly correlated with richness in all fungal functional groups: positively in saprotrophic, pathogenic and lichenised fungi, and negatively in ectomycorrhizal and root endophytic fungi. Our results suggest complex interactions amongst functional groups, possibly due to nutrient limitation or competitive exclusion, with potential implications on soil carbon stocks. These findings are important in the light of the environmental changes predicted for the Arctic.
PubMed ID
28664999 View in PubMed
Less detail

Abscess disease, caseous lymphadenitis, and pulmonary adenomatosis in imported sheep.

https://arctichealth.org/en/permalink/ahliterature20491
Source
J Vet Med B Infect Dis Vet Public Health. 2000 Feb;47(1):55-62
Publication Type
Article
Date
Feb-2000
Author
K. Møller
J S Agerholm
P. Ahrens
N E Jensen
T K Nielsen
Author Affiliation
Department of Microbiology, Danish Veterinary Laboratory, Copenhagen, Denmark.
Source
J Vet Med B Infect Dis Vet Public Health. 2000 Feb;47(1):55-62
Date
Feb-2000
Language
English
Publication Type
Article
Keywords
Abscess - epidemiology - microbiology - pathology - veterinary
Adenomatosis, Pulmonary - epidemiology - microbiology - pathology - veterinary
Animals
DNA Primers - chemistry
DNA, Bacterial - chemistry - isolation & purification
DNA, Ribosomal - chemistry - isolation & purification
Denmark - epidemiology
Disease Outbreaks - veterinary
Lymph Nodes - microbiology - pathology
Lymphadenitis - epidemiology - microbiology - pathology - veterinary
Polymerase Chain Reaction - veterinary
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Sheep
Sheep Diseases - epidemiology - microbiology - pathology
Staphylococcal Infections - epidemiology - microbiology - pathology - veterinary
Staphylococcus aureus - genetics - isolation & purification
Abstract
The occurrence of abscess disease, caseous lymphadenitis, and pulmonary adenomatosis in sheep in Denmark is reported for the first time. Subcutaneous abscesses were observed in imported 4- to 5-month-old lambs of the Lacaune breed 10 days after arrival in Denmark. Abscesses were mostly located in the head, neck and shoulder regions close to the regional lymph nodes. Bacteriological examinations revealed growth of Staphylococcus aureus ssp. anaerobius in all animals with subcutaneously located abscesses containing a viscous white-yellow odourless mass. In addition, Corynebacterium pseudotuberculosis was isolated from abscesses in one animal and lesions consistent with pulmonary adenomatosis were found in four animals.
PubMed ID
10780173 View in PubMed
Less detail

Absence of dihydropteroate synthase gene mutations in Pneumocystis jirovecii isolated from Swedish patients.

https://arctichealth.org/en/permalink/ahliterature133180
Source
Med Mycol. 2012 Apr;50(3):320-3
Publication Type
Article
Date
Apr-2012
Author
Jessica Beser
Leigh Dini
Silvia Botero-Kleiven
Margareta Krabbe
Johan Lindh
Per Hagblom
Author Affiliation
Swedish Institute for Communicable Disease Control, Solna, Sweden. Jessica.Beser@smi.se
Source
Med Mycol. 2012 Apr;50(3):320-3
Date
Apr-2012
Language
English
Publication Type
Article
Keywords
DNA, Fungal - chemistry - genetics
Dihydropteroate Synthase - genetics
Humans
Immunocompromised Host
Pneumocystis jirovecii - enzymology - genetics - isolation & purification
Pneumonia, Pneumocystis - microbiology
Point Mutation
Polymerase Chain Reaction
Retrospective Studies
Sequence Analysis, DNA
Sweden
Abstract
Pneumocystis jirovecii remains an important cause of pneumonia in the immunocompromised host, with the largest group of patients at risk for P. jirovecii pneumonia (PCP) in Sweden being those with haematological diseases. Widespread prophylaxis and treatment for P. jirovecii with sulfa-containing drugs have effectively decreased the incidence of PCP, but concerns have been raised about the possible emergence of P. jirovecii isolates that are resistant to these drugs. Two point mutations in the gene coding for the dihydropteroate synthase enzyme (DHPS) in P. jirovecii have been shown to be associated with prior exposure to sulfa drugs. We retrospectively studied the occurrence of P. jirovecii DHPS mutations in isolates recovered from 103 Swedish patients. The DHPS gene, including the polymorphic positions 165 and 171, were amplified and sequenced by pyrosequencing technology. All the clinical specimens showed a wild-type pattern indicating that the occurrence of P. jirovecii DHPS mutations in Sweden is very low or absent.
PubMed ID
21732748 View in PubMed
Less detail

Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations.

https://arctichealth.org/en/permalink/ahliterature63350
Source
Mol Hum Reprod. 2004 Oct;10(10):763-6
Publication Type
Article
Date
Oct-2004
Author
Min Jiang
Marja-Liisa Savontaus
Henrik Simonsen
Catherine Williamson
Roman Müllenbach
Jörg Gromoll
Nicole Terwort
Maria Alevizaki
Ilpo Huhtaniemi
Author Affiliation
Department of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland. min.jiang@utu.fi
Source
Mol Hum Reprod. 2004 Oct;10(10):763-6
Date
Oct-2004
Language
English
Publication Type
Article
Keywords
Chorionic Gonadotropin, beta Subunit, Human - genetics
Ethnic Groups
Europe
Female
Humans
Methionine - genetics
Polymorphism, Genetic
Pregnancy
Protein Isoforms - genetics
Random Allocation
Reproducibility of Results
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Valine - genetics
Abstract
Chorionic gonadotropin (CG) is an essential signal in establishment and maintenance of pregnancy in humans and higher primates. A G-to-A transition in exon 3 of human CGbeta gene 5, changing the naturally occurring valine residue to methionine in codon 79 (Val(79)Met) has been reported at carrier frequency 4.2% in a random population from the Midwest of the United States. The biological activity of the variant hCG was similar to that of wild-type (WT) hCG. However, the Val(79)Met beta-subunit displayed impaired ability to assemble with alpha-subunit, and the amount of hCG alpha/beta heterodimers formed and secreted by transfected cells was seriously impaired in the previous study. Because of these functional implications we found it important to study the occurrence of the Val(79)Met hCGbeta variant in other populations. By using a PCR-RFLP method, a search for the Val(79)Met hCGbeta variant was carried out on a total of 580 DNA samples from five European populations (Finland, Denmark, Greece, Germany and the UK). The results demonstrated an absence of the polymorphism in these populations. Hence, the naturally occurring variant (Val(79)Met) of the hCGbeta gene 5, found previously at high frequency in the US, is clearly less common, or absent, in the European populations studied.
PubMed ID
15299093 View in PubMed
Less detail

Abyssivirga alkaniphila gen. nov., sp. nov., an alkane-degrading, anaerobic bacterium from a deep-sea hydrothermal vent system, and emended descriptions of Natranaerovirga pectinivora and Natranaerovirga hydrolytica.

https://arctichealth.org/en/permalink/ahliterature275915
Source
Int J Syst Evol Microbiol. 2016 Apr;66(4):1724-34
Publication Type
Article
Date
Apr-2016
Author
Anders Schouw
Tove Leiknes Eide
Runar Stokke
Rolf Birger Pedersen
Ida Helene Steen
Gunhild Bødtker
Source
Int J Syst Evol Microbiol. 2016 Apr;66(4):1724-34
Date
Apr-2016
Language
English
Publication Type
Article
Keywords
Alkanes - metabolism
Arctic Regions
Bacterial Typing Techniques
Base Composition
Biodegradation, Environmental
Clostridiales - classification - genetics - isolation & purification
DNA, Bacterial - genetics
Fatty Acids - chemistry
Glycolipids - chemistry
Hydrothermal Vents - microbiology
Molecular Sequence Data
Peptidoglycan - chemistry
Phospholipids - chemistry
Phylogeny
RNA, Ribosomal, 16S - genetics
Sequence Analysis, DNA
Abstract
A strictly anaerobic, mesophilic, syntrophic, alkane-degrading strain, L81T, was isolated from a biofilm sampled from a black smoker chimney at the Loki's Castle vent field. Cells were straight, rod-shaped, Gram-positive-staining and motile. Growth was observed at pH?6.2-9.5, 14-42?°C and 0.5-6?% (w/w) NaCl, with optima at pH?7.0-8.2, 37?°C and 3% (w/w) NaCl. Proteinaceous substrates, sugars, organic acids and hydrocarbons were utilized for growth. Thiosulfate was used as an external electron acceptor during growth on crude oil. Strain L81T was capable of syntrophic hydrocarbon degradation when co-cultured with a methanogenic archaeon, designated strain LG6, isolated from the same enrichment. Phylogenetic analysis based on the 16S rRNA gene sequence indicated that strain L81T is affiliated with the family Lachnospiraceae, and is most closely related to the type strains of Natranaerovirga pectinivora (92?% sequence similarity) and Natranaerovirga hydrolytica (90%). The major cellular fatty acids of strain L81T were C15?:?0, anteiso-C15?:?0 and C16?:?0, and the profile was distinct from those of the species of the genus Natranaerovirga. The polar lipids were phosphatidylglycerol, diphosphatidylglycerol, three unidentified phospholipids, four unidentified glycolipids and two unidentified phosphoglycolipids. The G+C content of genomic DNA was determined to be 31.7?mol%. Based on our phenotypic, phylogenetic and chemotaxonomic results, strain L81T is considered to represent a novel species of a new genus of the family Lachnospiraceae, for which we propose the name Abyssivirga alkaniphila gen. nov., sp. nov. The type strain of Abyssivirga alkaniphila is L81T (=DSM 29592T=JCM 30920T). We also provide emended descriptions of Natranaerovirga pectinivora and Natranaerovirga hydrolytica.
PubMed ID
26822139 View in PubMed
Less detail

1243 records – page 1 of 125.