Skip header and navigation

Refine By

20 records – page 1 of 2.

The A1 allele of the D2 dopamine receptor gene is associated with high dopamine transporter density in detoxified alcoholics.

https://arctichealth.org/en/permalink/ahliterature46100
Source
Alcohol Alcohol. 2001 May-Jun;36(3):262-5
Publication Type
Article
Author
T P Laine
A. Ahonen
P. Räsänen
T. Pohjalainen
J. Tiihonen
J. Hietala
Author Affiliation
Department of Psychiatry, University of Oulu, FIN-90220 Oulu, Finland.
Source
Alcohol Alcohol. 2001 May-Jun;36(3):262-5
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alcoholism - genetics - metabolism - psychology
Alleles
Carrier Proteins - genetics
DNA - genetics - isolation & purification
Depression - psychology
Dopamine Plasma Membrane Transport Proteins
Female
Genotype
Humans
Male
Membrane Glycoproteins
Membrane Transport Proteins
Middle Aged
Nerve Tissue Proteins
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Receptors, Dopamine D2 - genetics
Research Support, Non-U.S. Gov't
Taq Polymerase
Abstract
The A1 allele of TaqI A restriction fragment length polymorphism (RFLP) in the D2 receptor (DRD2) gene locus has been suggested to be associated with low D2 receptor density in man. Striatal dopamine transporter (DAT) densities were studied with [(123)I]2-beta-carbometoxy-3beta(4-iodophenyl)tropane and single-photon emission tomography in 29 detoxified alcoholics, who were also genotyped for the two alleles of TaqI A RFLP at the DRD2 receptor gene locus. Alcoholics with the A1/A2 genotypes (n = 10) had statistically significantly higher DAT densities than subjects with the A2/A2 genotypes [n = 19; 8.0 +/- 1.2 (mean +/- SD) vs 6.9 +/- 1.1, P = 0.035]. We suggest that the TaqI A RFLP is in linkage disequilibrium with a gene variant modifying DAT density in alcoholics.
PubMed ID
11373265 View in PubMed
Less detail

[A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine]

https://arctichealth.org/en/permalink/ahliterature33908
Source
Tsitol Genet. 1997 Nov-Dec;31(6):75-81
Publication Type
Article
Author
A Iu Ekshiian
L A Livshits
A M Bychkova
N A Afanas'eva
I R Bariliak
Source
Tsitol Genet. 1997 Nov-Dec;31(6):75-81
Language
Russian
Publication Type
Article
Keywords
Adult
Child
Chimera - genetics
DNA - genetics - isolation & purification
DNA Primers
Electrophoresis, Agar Gel
English Abstract
Exons - genetics
Gene Deletion
Heterozygote
Homozygote
Humans
Molecular Biology
Polymerase Chain Reaction - methods
Research Support, Non-U.S. Gov't
Risk factors
Spinal Muscular Atrophies of Childhood - genetics
Ukraine
Abstract
The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.
PubMed ID
9591348 View in PubMed
Less detail

An HLA class-II allele frequent in Eskimos and Amerindians is found in the Tyrolean Ice Man.

https://arctichealth.org/en/permalink/ahliterature192982
Source
Ann Hum Genet. 2001 Jul;65(Pt 4):363-9
Publication Type
Article
Date
Jul-2001
Author
G F Fischer
I. Fae
D. Mann
D. Kriks
W. Jäger
W. Platzer
W R Mayr
B. Volc-Platzer
Author Affiliation
Department of Blood Group Serology, University of Vienna Medical School, Austria. gottfried.fischer@akh-wien.ac.at
Source
Ann Hum Genet. 2001 Jul;65(Pt 4):363-9
Date
Jul-2001
Language
English
Publication Type
Article
Keywords
Alleles
Base Sequence
Calcaneus - metabolism
DNA - genetics - isolation & purification - metabolism
Gene Frequency
Genes, MHC Class II - genetics
HLA-DQ Antigens - genetics
HLA-DQ beta-Chains
HLA-DR Antigens - genetics
HLA-DRB1 Chains
History, Ancient
Humans
Indians, North American - genetics
Inuits - genetics
Italy
Male
Molecular Sequence Data
Mummies
Phylogeny
Polymerase Chain Reaction
Sensitivity and specificity
Abstract
DNA was extracted from specimens derived from the calcaneus of the Tyrolean Ice Man under sterile conditions in a laboratory, where no DNA extractions and PCR experiments had been performed before. Agarose gel electrophoresis and ethidium bromide staining did not reveal any evidence of genomic DNA in the preparation obtained, indicating a high degree of DNA degradation. Nevertheless, we performed PCR amplifications with this sample using primer pairs specific for HLA class II alleles. HLA-DRB and DQB1 alleles were amplified in a nested PCR approach. In one of the reactions, we observed a distinct amplification product, which we directly sequenced. By comparing the obtained nucleotide sequence with a database of HLA alleles we assigned the HLA-DRB1*1402 type to the amplified sample. None of the investigators involved possesses this allele, indicating that no contamination with modern DNA had occurred. The HLA-DRB1*1402 allele is extremely rare in Europe, but is common in Inuits and South American Indians and has previously only once been identified in the laboratory.
PubMed ID
11592925 View in PubMed
Less detail

The association between cigarette smoking and carotid intima-media thickness is influenced by the -930A/G CYBA gene polymorphism: the Cardiovascular Risk in Young Finns Study.

https://arctichealth.org/en/permalink/ahliterature153088
Source
Am J Hypertens. 2009 Mar;22(3):281-7
Publication Type
Article
Date
Mar-2009
Author
Fan M
Raitakari OT
Kähönen M
Juonala M
Hutri-Kähönen N
Pörsti I
Viikari J
Lehtimäki T
Author Affiliation
Laboratory of Atherosclerosis Genetics, Department of Clinical Chemistry, Tampere University Hospital, University of Tampere, Tampere, Finland. meng.fan@uta.fi
Source
Am J Hypertens. 2009 Mar;22(3):281-7
Date
Mar-2009
Language
English
Publication Type
Article
Keywords
Adult
Atherosclerosis - genetics - pathology
Cardiovascular Diseases - epidemiology - genetics - pathology
Carotid Arteries - pathology
DNA - genetics - isolation & purification
Female
Finland - epidemiology
Gene Frequency
Genotype
Humans
Male
NADPH Oxidase - genetics
Polymorphism, Genetic - genetics
Risk factors
Smoking - epidemiology - genetics - pathology
Young Adult
Abstract
Smoking-induced damage to the cardiovascular system has been shown in many studies; however, the degree of damage varies from individual to individual. We hypothesized that the -930A/G CYBA gene polymorphism in the NADPH oxidase influences the association between cigarette smoking and carotid intima-media thickness (IMT) in young healthy adults.
Cross-sectional data obtained in 2001 for the Cardiovascular Risk in Young Finns Study were used. IMT was measured with ultrasound. The genotyping was performed using a 5'-nuclease assay. A linear regression model was used to test whether the interaction between smoking and the genotypes was associated with IMT. The magnitude of the interaction effect was further examined by performing a stratified analysis according to smoking habits.
In the entire population, the mean and maxima IMT were higher in smokers than nonsmokers (P = 0.005 and 0.008, respectively). The differences were most significant in subjects with the GG genotype, borderline significant for the GA genotype, and nonsignificant for the AA genotype. The interaction of genotypes with smoking was associated with mean and maximal IMT (P = 0.042 and 0.022). Among smokers, subjects with the GG genotype had a higher mean and maximal IMT compared with carriers of the A allele (P = 0.021 and 0.012). In contrast, the mean and maximal IMT were lower for G allele carriers than subjects with the AA genotype among nonsmokers (P = 0.022 and 0.026). All results had been adjusted for potential risk factors related to IMT.
The -930A/G polymorphism modifies the association between cigarette smoking and IMT in young healthy adults.
PubMed ID
19151692 View in PubMed
Less detail

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

https://arctichealth.org/en/permalink/ahliterature150792
Source
Eur J Med Genet. 2009 Sep-Oct;52(5):297-302
Publication Type
Article
Author
Eva-Lena Stattin
Bjarne Lindén
Torsten Lönnerholm
Jens Schuster
Niklas Dahl
Author Affiliation
Department of Medical Biosciences, Medical and Clinical genetics, Umeå University, Umeå, Sweden. evalena.stattin@medbio.umu.se
Source
Eur J Med Genet. 2009 Sep-Oct;52(5):297-302
Language
English
Publication Type
Article
Keywords
Adult
Aged, 80 and over
Amino Acid Sequence
Amino Acid Substitution
Case-Control Studies
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 5
Cysteine - metabolism
DNA - genetics - isolation & purification
DNA Mutational Analysis
Female
Genes, Dominant
Genetic markers
Hedgehog Proteins - chemistry - genetics
Heterozygote
Humans
Limb Deformities, Congenital - genetics - radiography
Male
Microsatellite Repeats
Middle Aged
Models, Molecular
Molecular Sequence Data
Mutation, Missense
Pedigree
Phenotype
Polymorphism, Genetic
Protein Conformation
Protein Structure, Tertiary
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Sweden
Abstract
Brachydactyly type A1 (BDA1; MIM 112500) is characterized by shortness or absence of the middle phalanx of the hands and feet. The condition is caused by heterozygous mutations in the Indian hedgehog (IHH) gene or a yet unidentified gene on chromosome 5p13. We investigated six affected members of a large Swedish family segregating autosomal dominant brachymesophalangia. Affected individuals show hypoplasia of the ulnar styloid processes, ulna minus, osteoarthritis, normal length of all distal phalanges and shortening or absence of the middle phalanges. Stationary ossicles or sesamoid bones were observed at the metacarpal heads in all patients. Genetic analysis of the family showed that the IHH-gene was linked to the disease (Z(max) 3.42 at theta 0.00) and sequence analysis of IHH revealed a novel c.472C > T transition in all affected family members. The mutation results in a p.158Arg > Cys substitution located in the highly conserved amino-terminal domain of IHH. This domain is of importance for the interaction between IHH and the Patched receptor. Our combined findings add radiological findings to the BDA1 phenotype and confirm a critical functional domain of IHH.
PubMed ID
19464397 View in PubMed
Less detail

Catching the fish with the worm: a case study on eDNA detection of the monogenean parasite Gyrodactylus salaris and two of its hosts, Atlantic salmon (Salmo salar) and rainbow trout (Oncorhynchus mykiss).

https://arctichealth.org/en/permalink/ahliterature296590
Source
Parasit Vectors. 2018 Jun 04; 11(1):333
Publication Type
Evaluation Studies
Journal Article
Date
Jun-04-2018
Author
Johannes C Rusch
Haakon Hansen
David A Strand
Turhan Markussen
Sigurd Hytterød
Trude Vrålstad
Author Affiliation
Norwegian Veterinary Institute, P.O. Box 750, Sentrum, NO-0106, Oslo, Norway.
Source
Parasit Vectors. 2018 Jun 04; 11(1):333
Date
Jun-04-2018
Language
English
Publication Type
Evaluation Studies
Journal Article
Keywords
Animals
Cestode Infections - parasitology - veterinary
DNA - genetics - isolation & purification
Fish Diseases - parasitology
Fisheries
Norway
Oncorhynchus mykiss - parasitology
Parasitology - methods
Platyhelminths - genetics - isolation & purification - physiology
Rivers - chemistry - parasitology
Salmo salar - parasitology
Abstract
Environmental DNA (eDNA) monitoring is growing increasingly popular in aquatic systems as a valuable complementary method to conventional monitoring. However, such tools have not yet been extensively applied for metazoan fish parasite monitoring. The fish ectoparasite Gyrodactylus salaris, introduced into Norway in 1975, has caused severe damage to Atlantic salmon populations and fisheries. Successful eradication of the parasite has been carried out in several river systems in Norway, and Atlantic salmon remain infected in only seven rivers, including three in the Drammen region. In this particular infection region, a prerequisite for treatment is to establish whether G. salaris is also present on rainbow trout upstream of the salmon migration barrier. Here, we developed and tested eDNA approaches to complement conventional surveillance methods.
Water samples (2 × 5 l) were filtered on-site through glass fibre filters from nine locations in the Drammen watercourse, and DNA was extracted with a CTAB protocol. We developed a qPCR assay for G. salaris targeting the nuclear ribosomal ITS1 region, and we implemented published assays targeting the mitochondrial cytochrome-b and NADH-regions for Atlantic salmon and rainbow trout, respectively. All assays were transferred successfully to droplet digital PCR (ddPCR).
All qPCR/ddPCR assays performed well both on tissue samples and on field samples, demonstrating the applicability of eDNA detection for G. salaris, rainbow trout and Atlantic salmon in natural water systems. With ddPCR we eliminated a low cross-amplification of Gyrodactylus derjavinoides observed using qPCR, thus increasing specificity and sensitivity substantially. Duplex ddPCR for G. salaris and Atlantic salmon was successfully implemented and can be used as a method in future surveillance programs. The presence of G. salaris eDNA in the infected River Lierelva was documented, while not elsewhere. Rainbow trout eDNA was only detected at localities where the positives could be attributed to eDNA release from upstream land-based rainbow trout farms. Electrofishing supported the absence of rainbow trout in all of the localities.
We provide a reliable field and laboratory protocol for eDNA detection of G. salaris, Atlantic salmon and rainbow trout, that can complement conventional surveillance programs and substantially reduce the sacrifice of live fish. We also show that ddPCR outperforms qPCR with respect to the specific detection of G. salaris.
PubMed ID
29866158 View in PubMed
Less detail

Common variants of the ACE gene and aneurysmal subarachnoid hemorrhage in a Danish population: a case-control study.

https://arctichealth.org/en/permalink/ahliterature133383
Source
J Neurosurg Anesthesiol. 2011 Oct;23(4):304-9
Publication Type
Article
Date
Oct-2011
Author
Jonatan Myrup Staalsø
Morten Nielsen
Troels Edsen
Pernille Koefoed
Jacob Bertram Springborg
Finn Borgbjerg Moltke
Henning Laursen
Henning Bay Nielsen
Niels Vidiendal Olsen
Author Affiliation
Department of Neuroscience and Pharmacology, The Neuroscience Centre, Copenhagen, Denmark.
Source
J Neurosurg Anesthesiol. 2011 Oct;23(4):304-9
Date
Oct-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
Case-Control Studies
DNA - genetics - isolation & purification
Denmark - epidemiology
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Male
Middle Aged
Peptidyl-Dipeptidase A - genetics
Polymorphism, Single Nucleotide - genetics
Subarachnoid Hemorrhage - epidemiology - genetics
Young Adult
Abstract
The intron 16 insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene has been associated with rupture of intracranial aneurysms, but the effect of haplotypes within ACE has not been studied. This study investigated whether ACE haplotypes including the I/D polymorphism are associated with aneurysmal subarachnoid hemorrhage.
The hypothesis was tested with a case-control design in 176 patients with aneurysmal subarachnoid hemorrhage and with 498 hospital controls. Through the pairwise tagging principle, single nucleotide polymorphisms (rs4291 A/T, rs4295 C/G, rs4305 C/T, rs4311 C/T, rs4331 T/C, rs4343 C/T) in the ACE gene were genotyped along with the I/D polymorphism. Haplotypes were estimated using the PHASE software.
Fifty-five haplotypes were identified with 3 of these having a frequency above 5%: ACCCCIT (41.6±0.4%), TGTTTDC (32.1±0.5%), and ACCTTDC (9.5±0.2%). No significant difference in distribution of alleles, genotypes, haplotypes, or haplotype pairs between the 2 populations was found. Specifically, we could not reproduce previously reported associations between the ACE I genotype and intracranial aneurysms. When subdivided into groups of aneurysm location, we found a trend toward an association between homozygotes of the ACCCCIT haplotype and middle cerebral artery aneurysms, odds ratio=2.9 (1.0 to 7.6), which however proved insignificant (P=0.22) after correction for multiple testing.
In this Danish population, ACE haplotypes and the I/D polymorphism did not contribute significantly to the overall risk of intracranial aneurysm rupture. Larger studies are needed to delineate the association between ACE polymorphism and ruptured middle cerebral artery aneurysms.
PubMed ID
21709586 View in PubMed
Less detail

Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen.

https://arctichealth.org/en/permalink/ahliterature65457
Source
FEBS Lett. 1987 Dec 10;225(1-2):188-94
Publication Type
Article
Date
Dec-10-1987
Author
R. Soininen
T. Haka-Risku
D J Prockop
K. Tryggvason
Author Affiliation
Biocenter and Department of Biochemistry, University of Oulu, Finland.
Source
FEBS Lett. 1987 Dec 10;225(1-2):188-94
Date
Dec-10-1987
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Base Sequence
Basement Membrane - analysis
Collagen - genetics
DNA - genetics - isolation & purification
DNA, Recombinant - isolation & purification
Disulfides
Female
Humans
Molecular Sequence Data
Placenta - analysis
Pregnancy
Repetitive Sequences, Nucleic Acid
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Abstract
We have determined the primary structure of the alpha 1(IV)-chain of human type IV collagen by nucleotide sequencing of overlapping cDNA clones that were isolated from a human placental cDNA library. The present data provide the sequence of 295 amino acids not previously determined. Altogether, the alpha 1(IV)-chain contains 1642 amino acids and has a molecular mass of 157625 Da. There are 1413 residues in the collagenous domain and 229 amino acids in the carboxy-terminal globular domain. The human alpha 1(IV)-chain contains a total of 21 interruptions in the collagenous Gly-X-Y repeat sequence. These interruptions vary in length between two and eleven residues. The alpha 1(IV)-chain contains four cysteine residues in the triple-helical domain, four cysteines in the 15-residue long noncollagenous sequence at the amino-terminus and 12 cysteines in the carboxy-terminal NC-domain.
PubMed ID
3691802 View in PubMed
Less detail

Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV).

https://arctichealth.org/en/permalink/ahliterature65174
Source
J Biol Chem. 1990 Aug 15;265(23):13758-66
Publication Type
Article
Date
Aug-15-1990
Author
T. Pihlajaniemi
E R Pohjolainen
J C Myers
Author Affiliation
Collagen Research Unit, University of Oulu, Finland.
Source
J Biol Chem. 1990 Aug 15;265(23):13758-66
Date
Aug-15-1990
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Base Sequence
Cloning, Molecular
Collagen - genetics
Comparative Study
DNA - genetics - isolation & purification
Female
Gene Library
Humans
Macromolecular Substances
Molecular Sequence Data
Placenta - metabolism
Pregnancy
Protein Conformation
Research Support, U.S. Gov't, P.H.S.
Restriction Mapping
Sequence Homology, Nucleic Acid
Abstract
We have isolated and characterized overlapping cDNA clones which code for a previously unidentified human collagen chain. Although the cDNA-derived primary structure of this new polypeptide is very similar to the basement membrane collagen alpha 1(IV) and alpha 2(IV) chains, the carboxyl-terminal collagenous/non-collagenous junction sequence does not correspond to the junction sequence in either of the newly described alpha 3(IV) or alpha 4(IV) chains (Butkowski, R.J., Langeveld, J.P.M., Wieslander, J., Hamilton, J., and Hudson, B. G. (1987) J. Biol. Chem. 262, 7874-7877). Thus the protein presented here has been designated the alpha 5 chain of type IV collagen. Four clones encode an open reading frame of 1602 amino acids that cover about 95% of the entire chain including half of the amino-terminal 7S domain and all of the central triple-helical region and carboxyl-terminal NC1 domain. The collagenous region of the alpha 5(IV) chain contains 22 interruptions which are in most cases identical in distribution to those in both the alpha 1(IV) and alpha 2(IV) chains. Despite the relatively low degree of conservation among the amino acids in the triple-helical region of the three type IV collagen chains, analysis of the sequences clearly showed that alpha 5(IV) is more related to alpha 1(IV) than to alpha 2(IV). This similarity between the alpha 5(IV) and alpha 1(IV) chains is particularly evident in the NC1 domains where the two polypeptides are 83% identical in contrast to the alpha 5(IV) and alpha 2(IV) identity of 63%. In addition to greatly increasing the complexity of basement membranes, the alpha 5 chain of type IV collagen may be responsible for specialized functions of some of these extracellular matrices. In this regard, it is important to note that we have recently assigned the alpha 5(IV) gene to the region of the X chromosome containing the locus for a familial type of hereditary nephritis known as Alport syndrome (Myers, J.C., Jones, T.A., Pohjalainen, E.-R., Kadri, A.S., Goddard, A.D., Sheer, D., Solomon, E., and Pihlajaniemi, T. (1990) Am. J. Hum. Genet. 46, 1024-1033). Consequently, the newly discovered alpha 5(IV) collagen chain may have a critical role in inherited diseases of connective tissue.
PubMed ID
2380186 View in PubMed
Less detail

The European land leech: biology and DNA-based taxonomy of a rare species that is threatened by climate warming.

https://arctichealth.org/en/permalink/ahliterature95615
Source
Naturwissenschaften. 2007 Dec;94(12):967-74
Publication Type
Article
Date
Dec-2007
Author
Kutschera U.
Pfeiffer I.
Ebermann E.
Author Affiliation
Institute of Biology, University of Kassel, Heinrich-Plett-Strasse 40, Kassel, Germany. kut@uni-kassel.de
Source
Naturwissenschaften. 2007 Dec;94(12):967-74
Date
Dec-2007
Language
English
Publication Type
Article
Keywords
Animals
Climate
DNA - genetics - isolation & purification
Ecosystem
Europe
Female
Greenhouse Effect
Leeches - anatomy & histology - classification - genetics - physiology
Male
Molecular Sequence Data
Population Density
Abstract
The European land leech Xerobdella lecomtei was discovered in 1868 and is one of the rarest animals on Earth. During the 1960s, several individuals of these approx. 40 mm long, cold-adapted terrestrial annelids that inhabit the moist soils of birch forests around Graz, Austria, were investigated. Only one original research paper has been published on the biology of this species. Between 2001 and 2005, we re-investigated the morphology of preserved specimens and searched for living individuals in their natural habitat that appeared to be intact. We found only one juvenile individual (length approx. 10 mm), indicating that this local leech population became largely extinct over the past four decades. The feeding behaviour of our 'lonesome George of the annelids' was studied and is described here in detail. After its death, the Xerobdella individual was used for chemical extraction and molecular studies (deoxyribonucleic acid [DNA] barcoding, based on one gene, the mitochondrial cytochrome c oxidase subunit I). In addition, novel DNA barcodes for a land leech from Madagascar and a recently discovered species from Europe were obtained. Our phylogenetic tree shows that X. lecomtei is not a member of the tropical land leeches (family Haemadipsidae), as previously thought, but represents a separate line of descent (family Xerobdellidae). The decline of the local leech population around Graz correlates with a rise in average summer temperatures of +3 degrees C between 1961 and 2004. This warming led to a drastic reduction in the moisture content of the soil where X. lecomtei lives. We suggest that human-induced climate change without apparent habitat destruction can lead to the extinction of populations of cold-adapted species that have a low colonization ability.
PubMed ID
17646954 View in PubMed
Less detail

20 records – page 1 of 2.