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110 records – page 1 of 11.

Aml1 gene rearrangements and mutations in radiation-associated acute myeloid leukemia and myelodysplastic syndromes.

https://arctichealth.org/en/permalink/ahliterature16922
Source
J Radiat Res (Tokyo). 2005 Jun;46(2):249-55
Publication Type
Article
Date
Jun-2005
Author
Sergiy Klymenko
Klaus Trott
Michael Atkinson
Karin Bink
Vladimir Bebeshko
Dimitry Bazyka
Iryna Dmytrenko
Iryna Abramenko
Nadia Bilous
Andrei Misurin
Horst Zitzelsberger
Michael Rosemann
Author Affiliation
Department of Haematology, Research Centre for Radiation Medicine, Kyiv, Ukraine. klymenko_sergiy@yahoo.co.uk
Source
J Radiat Res (Tokyo). 2005 Jun;46(2):249-55
Date
Jun-2005
Language
English
Publication Type
Article
Keywords
Accidents, Radiation
Adult
Aged
Causality
Chernobyl Nuclear Accident
Core Binding Factor Alpha 2 Subunit
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Female
Gene Frequency
Humans
Incidence
Leukemia, Myelocytic, Acute - epidemiology - genetics - metabolism
Male
Middle Aged
Myelodysplastic Syndromes - epidemiology - genetics - metabolism
Neoplasms, Radiation-Induced - epidemiology - genetics - metabolism
Power Plants
Proto-Oncogene Proteins - genetics
Research Support, Non-U.S. Gov't
Risk Assessment - methods
Risk factors
Transcription Factors - genetics
Translocation, Genetic - genetics - radiation effects
Ukraine - epidemiology
Abstract
Several studies suggested a causal link between AML1 gene rearrangements and both radiation-induced acute myeloid leukaemia (AML) and myelodysplastic syndromes (MDS). Fifty-three AML samples were analyzed for the presence of AML1 abnormalities using fluorescent in-situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). Of these patients, 24 had experienced radiation exposure due to the Chernobyl accident, and 29 were non-irradiated spontaneous AML cases and served as controls. AML1/ETO translocations were found in 9 of 29 spontaneous AML but only in 1 of 24 radiation-associated AML cases. This difference between translocation frequencies is statistically significant in the age-unstratified cohorts (p=0.015). Following age stratification, the difference becomes less pronounced but remains on borderline significance (p=0.053). AML1 mutation status was assessed in 5 clean-up workers at Chernobyl NPP with MDS, or AML following MDS, by direct sequencing of genomic DNA from the coding region (exon 3 through 8). In one patient who developed MDS following an acute radiation syndrome, a hexanucleotide duplication of CGGCAT in exon 8 was found, inserted after base position 1502. Our results suggest that AML1 gene translocations are infrequent in radiation-induced leukemogenesis but are consistent with the idea that radiation may contribute to the development of MDS through AML1 gene mutation.
PubMed ID
15988144 View in PubMed
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Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature146774
Source
Amyotroph Lateral Scler. 2010 Aug;11(4):389-91
Publication Type
Article
Date
Aug-2010
Author
Hussein Daoud
Paul N Valdmanis
Patrick A Dion
Guy A Rouleau
Author Affiliation
Centre of Excellence in Neuromics, Université de Montréal, Montreal, Quebec, Canada.
Source
Amyotroph Lateral Scler. 2010 Aug;11(4):389-91
Date
Aug-2010
Language
English
Publication Type
Article
Keywords
Amyotrophic Lateral Sclerosis - genetics
Canada
Cohort Studies
DNA Mutational Analysis
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics
European Continental Ancestry Group
Gene Frequency
Genotype
Humans
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Potassium Channels - genetics
Proteins - genetics
Abstract
DPP6 and FGGY genes have been recently associated with an increased susceptibility for sporadic amyotrophic lateral sclerosis. Here, we evaluated the role of these genes in ALS pathogenesis by undertaking a sequence analysis of a cohort of 190 ALS patients from France and Quebec. We did not observe any evidence that mutations in DPP6 and FGGY genes are involved in ALS. Our data indicate that mutations in these genes are unlikely to be a common cause of ALS in the French and French Canadian populations.
PubMed ID
20001489 View in PubMed
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Analysis of restriction fragment length polymorphism of cytochrome P450 3A43 gene and evaluation of the incidence of CYP3A43*1B allele in europeoid residents of West Siberia.

https://arctichealth.org/en/permalink/ahliterature81410
Source
Bull Exp Biol Med. 2005 Dec;140(6):726-8
Publication Type
Article
Date
Dec-2005
Author
Shchepotina E G
Nikishina M V
Vavilin V A
Lyakhovich V V
Author Affiliation
Institute of Molecular Biology and Biophysics, Siberian Division of Russian Academy of Medical Sciences, Novosibirsk.
Source
Bull Exp Biol Med. 2005 Dec;140(6):726-8
Date
Dec-2005
Language
English
Publication Type
Article
Keywords
Adolescent
Alleles
Aryl Hydrocarbon Hydroxylases - genetics
Child
Child, Preschool
DNA Mutational Analysis
European Continental Ancestry Group
Female
Gene Frequency
Genetics, Population
Heterozygote
Homozygote
Humans
Infant
Male
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Siberia
Abstract
Analysis of restriction fragment length polymorphism is proposed for detecting CYP3A43 gene c1047 > T mutation. The incidence of this mutation (CYP3A43*1B allele) was evaluated in 102 europeoid residents of West Siberia and it was found to be 12.25%.
PubMed ID
16848237 View in PubMed
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Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.

https://arctichealth.org/en/permalink/ahliterature163252
Source
Clin Genet. 2007 Jun;71(6):569-75
Publication Type
Article
Date
Jun-2007
Author
S. Giroux
A. Dubé-Linteau
G. Cardinal
Y. Labelle
N. Laflamme
Y. Giguère
F. Rousseau
Author Affiliation
Unité de Recherche en Génétique Humaine et Moléculaire, Centre de Recherche de l'Hôpital St-François d'Assise du Centre Hospitalier Universitaire de Québec, Québec, Canada.
Source
Clin Genet. 2007 Jun;71(6):569-75
Date
Jun-2007
Language
English
Publication Type
Article
Keywords
Acyl-CoA Dehydrogenase - deficiency - genetics
Alleles
DNA Mutational Analysis
France - ethnology
Gene Frequency
Genetic Testing - economics - methods
Genotype
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors - enzymology - epidemiology - genetics
Point Mutation
Polymerase Chain Reaction - methods
Quebec - epidemiology
Reproducibility of Results
Abstract
Inherited deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a severe, sometimes fatal disorder. A single mutation in the MCAD gene, 985A>G, is involved in approximately 90% of cases. To evaluate the relevance of implementing a systematic population-based screening program in the province of Quebec using a biochemical test, we measured the prevalence of this mutation in a set of anonymous newborn samples from the Quebec City area, a region where the majority of its inhabitants are French-Canadians. An allele-specific polymerase chain reaction assay was designed and used to detect the mutation in 7143 DNA samples obtained from consecutive anonymous newborns. Pools of eight DNA samples were genotyped in parallel for the same mutation to validate this pooling strategy. The allelic frequency of the MCAD 985A>G mutation was found to be 0.71% and the carrier frequency 1:71 (95% confidence interval 1:55 to 1:98). This estimate predicts a homozygous frequency of 1:19,837. Ninety-nine heterozygous carriers and one homozygous individual were identified out of 7143 samples. There was 100% concordance between the individual and pooled analyses, and the pooling strategy reduced the total genotyping costs by approximately 70%. The carrier frequency estimated for this population is similar to other northwestern European populations and would support implementation of systematic newborn screening (such as tandem mass spectrometry screening) for this disease. Pooling DNA samples followed by genotyping appears to be cost-effective for estimating prevalence of rare mutations.
PubMed ID
17539907 View in PubMed
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Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.

https://arctichealth.org/en/permalink/ahliterature177604
Source
J Natl Cancer Inst. 2004 Nov 3;96(21):1631-4
Publication Type
Article
Date
Nov-3-2004
Author
Marina E Croitoru
Sean P Cleary
Nando Di Nicola
Michael Manno
Teresa Selander
Melyssa Aronson
Mark Redston
Michelle Cotterchio
Julia Knight
Robert Gryfe
Steven Gallinger
Author Affiliation
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada.
Source
J Natl Cancer Inst. 2004 Nov 3;96(21):1631-4
Date
Nov-3-2004
Language
English
Publication Type
Article
Keywords
Adenomatous Polyposis Coli - genetics
Aspartic Acid
Base Pair Mismatch
Case-Control Studies
Colorectal Neoplasms - epidemiology - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Cysteine
DNA Glycosylases - genetics
DNA Mutational Analysis
DNA, Neoplasm - analysis
Gene Frequency
Genetic Predisposition to Disease
Germ-Line Mutation
Glycine
Humans
Loss of Heterozygosity
Ontario - epidemiology
Phenotype
Risk factors
Tumor Markers, Biological - genetics
Tyrosine
Abstract
The MutY human homologue (MYH) gene encodes a member of the base excision repair pathway that is involved in repairing oxidative damage to DNA. Two germline MYH gene mutations that result in Myh proteins containing amino acid substitutions Y165C and G382D (hereafter called the Y165C and G382D mutations) are associated with adenomatous poly-posis and colorectal cancer among patients from several European poly-posis registries. We used a population-based series of 1238 colorectal cancer patients and 1255 healthy control subjects from Ontario, Canada, to examine the risk of colorectal cancer among biallelic and monoallelic germline MYH Y165C and G382D mutation carriers. The entire MYH gene coding region was screened in all MYH Y165C and G382D mutation carriers. Compared with noncarriers, biallelic and monoallelic germline MYH gene mutation carriers had an increased risk of colorectal cancer and were more likely to have first-or second-degree relatives with colorectal cancer (relative risk = 1.54, 95% confidence interval = 1.10 to 2.16). The increased risk of colorectal cancer in biallelic and monoallelic MYH gene mutation carriers was not consistently associated with the development of multiple adenomatous polyps. Loss of heterozygosity in at least one of four loci in MYH was detected in eight (47%) of 17 colorectal tumors from monoallelic MYH gene mutation carriers but in only two (20%) of 10 colorectal tumors from biallelic MYH gene mutation carriers. These two MYH gene mutations may account for a substantial fraction of hereditary colorectal cancer.
Notes
Comment In: J Natl Cancer Inst. 2005 Feb 16;97(4):320-1; author reply 321-215713969
PubMed ID
15523092 View in PubMed
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The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.

https://arctichealth.org/en/permalink/ahliterature82252
Source
J Headache Pain. 2006 Apr;7(2):70-4
Publication Type
Article
Date
Apr-2006
Author
Hagen Knut
Pettersen Elin
Stovner Lars Jacob
Skorpen Frank
Zwart John-Anker
Author Affiliation
Department of Clinical Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, Norway. knut.hagen@ntnu.no
Source
J Headache Pain. 2006 Apr;7(2):70-4
Date
Apr-2006
Language
English
Publication Type
Article
Keywords
Adult
Catechol O-Methyltransferase - genetics
DNA Mutational Analysis - methods
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Headache - classification - epidemiology - genetics
Humans
Male
Methionine - genetics
Middle Aged
Norway - epidemiology
Polymorphism, Genetic
Sex Factors
Valine - genetics
Abstract
The catechol-O-methyltransferase (COMT) gene contains a functional polymorphism, Val158Met, that has been found to influence human pain perception, and one study has found that migraine was less likely among those with the Val/Val polymorphism. In the 1995-97 Nord-Trøndelag Health (HUNT) Study, the association between the Val158Met polymorphism and headache was evaluated in a random sample of 2451 individuals. No association between Val158Met polymorphism and migraine was found. Among women, a lower prevalence of non-migrainous headache was found among individuals with the Val/Val genotype than among those with other genotypes (26.2% vs. 33.6%, p = 0.04). That non-migrainous headache was less likely among women with the Val/Val genotype may be an incidental finding, but should be investigated in further studies.
Notes
Comment In: J Headache Pain. 2006 Apr;7(2):6016688409
Comment In: J Headache Pain. 2006 Jun;7(3):165-616767536
PubMed ID
16688411 View in PubMed
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Association of a functional polymorphism in the promoter of the MDM2 gene with risk of nonsmall cell lung cancer.

https://arctichealth.org/en/permalink/ahliterature82740
Source
Int J Cancer. 2006 Aug 1;119(3):718-21
Publication Type
Article
Date
Aug-1-2006
Author
Lind Helge
Zienolddiny Shanbeh
Ekstrøm Per Olav
Skaug Vidar
Haugen Aage
Author Affiliation
Department of Toxicology, National Institute of Occupational Health, Oslo, Norway.
Source
Int J Cancer. 2006 Aug 1;119(3):718-21
Date
Aug-1-2006
Language
English
Publication Type
Article
Keywords
Aged
Carcinoma, Non-Small-Cell Lung - genetics
DNA Mutational Analysis
Female
Gene Frequency
Genotype
Humans
Linkage Disequilibrium
Lung Neoplasms - genetics
Male
Middle Aged
Norway
Odds Ratio
Polymorphism, Single Nucleotide
Promoter Regions (Genetics) - genetics
Proto-Oncogene Proteins c-mdm2 - genetics
Risk factors
Sex Factors
Tumor Suppressor Protein p53 - genetics
Abstract
Lung cancer is the leading cause of cancer mortality in the world. Although exposure to carcinogens is considered to be the main cause, genetic variation may contribute to lung cancer risk. Murine double minute 2, MDM2, is a key regulator of p53 activity and recently a polymorphism in the promoter region of the MDM2 gene was characterized. This single nucleotide polymorphism, SNP309, was shown to influence MDM2 transcription, MDM2 protein levels and p53 activity. The aim of this study was to investigate whether this functionally important SNP is associated with risk of nonsmall cell lung cancer. The study consisted of 341 nonsmall cell lung cancer cases and 412 healthy controls of Norwegian origin. Our results indicate that the G/G genotype of SNP309 is associated with lung cancer risk with an odds ratio of 1.62 (95% CI: 1.06-2.50). Interestingly, the strongest effect of the polymorphism was seen among women. Females homozygous for SNP309 G/G had associated odds ratio 4.06 (1.29-12.8). We also explored the MDM2 SNP309 in relation to TP53 gene mutations and age at nonsmall cell lung cancer diagnosis. Our results indicate that the G/G genotype of SNP309 is associated with higher age at diagnosis in individuals with TP53 mutations (p=0.037).
PubMed ID
16496380 View in PubMed
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Association of common ATM polymorphism with bilateral breast cancer.

https://arctichealth.org/en/permalink/ahliterature17156
Source
Int J Cancer. 2005 Aug 10;116(1):69-72
Publication Type
Article
Date
Aug-10-2005
Author
Katri Heikkinen
Katrin Rapakko
Sanna-Maria Karppinen
Hannele Erkko
Pentti Nieminen
Robert Winqvist
Author Affiliation
Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland.
Source
Int J Cancer. 2005 Aug 10;116(1):69-72
Date
Aug-10-2005
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
Cell Cycle Proteins - genetics
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Family Health
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Mutation
Ovarian Neoplasms - genetics
Polymorphism, Genetic
Protein-Serine-Threonine Kinases - genetics
Research Support, Non-U.S. Gov't
Tumor Suppressor Proteins - genetics
Abstract
The ATM kinase has an essential role in maintaining genomic integrity. Loss of both ATM alleles results in ataxia-telangiectasia (A-T), a rare autosomal recessive neuroimmunologic disorder associated with cancer susceptibility. Individuals heterozygous for germline ATM mutations have been reported to have an increased risk for malignancy, in particular, female breast cancer. In the current study, a full mutation analysis of the ATM gene was carried out in patients from 121 breast or breast-ovarian cancer families. We discovered that the combination of 5557G-->A in cis position with IVS38-8 T-->C was associated with bilateral breast cancer (OR = 10.2; 95% CI = 3.1-33.8; p = 0.001). As the 5557G-->A change has been reported to affect an exonic splicing enhancer, we hypothesized that the observed composite allele could have some effect on the correct splicing of exon 39. However, no aberrant transcripts were detected, but ATM expression levels of lymphoblast cell lines from heterozygous carriers of this combination allele were lower than from noncarriers (p = 0.09). Lowered gene expression levels may have direct influence on the activities in DNA damage recognition and response pathways, as well as other genome integrity maintenance functions. Based on the results, we propose a cancer risk-modifying effect for the ATM 5557G-->A, IVS38-8T-->C composite allele.
PubMed ID
15756685 View in PubMed
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BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.

https://arctichealth.org/en/permalink/ahliterature171664
Source
Eur J Hum Genet. 2006 Feb;14(2):167-72
Publication Type
Article
Date
Feb-2006
Author
Pia Vahteristo
Kirsi Syrjäkoski
Tuomas Heikkinen
Hannaleena Eerola
Kristiina Aittomäki
Karl von Smitten
Kaija Holli
Carl Blomqvist
Olli-Pekka Kallioniemi
Heli Nevanlinna
Author Affiliation
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland. pia.vahteristo@helsinki.fi
Source
Eur J Hum Genet. 2006 Feb;14(2):167-72
Date
Feb-2006
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Finland
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Mutation, Missense - genetics
Tumor Suppressor Proteins - genetics
Ubiquitin-Protein Ligases - genetics
Abstract
BARD1 (BRCA1-associated RING-domain 1) is a tumor suppressor whose protein product interacts with BRCA1, and in which rare somatic and germline mutations have been reported in breast, uterine, and endometrial cancers. We aimed to evaluate whether there are BARD1 genetic variants that contribute to breast cancer risk by screening the gene for germline alterations in 45 Finnish familial breast cancer patients and in seven patients with both breast and ovarian cancer. Two of the missense alterations identified (Cys557Ser and Val507Met) were recently suggested to associate with an increased breast cancer risk. We also analyzed these variants in large and independent series of familial and unselected breast cancer patients and healthy controls. No clearly deleterious mutations were detected in the initial mutation screening. No association of the Cys557Ser and breast cancer risk was observed as the variant was found altogether in 1.4% (16/1181) of familial and 2.2% (34/1565) of unselected breast cancer patients, and in 2.5% (27/1083) of healthy controls. The frequency of the Val-allele of the Val507Met variant was modestly higher among breast cancer patients than among healthy controls, although the difference did not reach statistical significance. No statistically significant association of the Cys557Ser or Val507Met variants with any clinicopathologic parameters was observed. These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility.
PubMed ID
16333312 View in PubMed
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BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups.

https://arctichealth.org/en/permalink/ahliterature165588
Source
Neurosci Lett. 2007 Mar 19;415(1):59-63
Publication Type
Article
Date
Mar-19-2007
Author
G. Xiromerisiou
G M Hadjigeorgiou
J. Eerola
H H Fernandez
V. Tsimourtou
R. Mandel
O. Hellström
K. Gwinn-Hardy
M S Okun
P J Tienari
A B Singleton
Author Affiliation
Neurogenetics Unit, Department of Neurology, University of Thessaly, Medical School, Papakyriazi 22 Street, Larissa 41222, Greece, and Helsinki University Centeral Hospital, Finland.
Source
Neurosci Lett. 2007 Mar 19;415(1):59-63
Date
Mar-19-2007
Language
English
Publication Type
Article
Keywords
Aged
Brain - metabolism - physiopathology
Brain Chemistry - genetics
Brain-Derived Neurotrophic Factor - genetics
Cohort Studies
DNA Mutational Analysis
European Continental Ancestry Group - genetics
Female
Finland - epidemiology
Gene Frequency
Genetic Markers - genetics
Genetic Predisposition to Disease - genetics
Genetic Testing
Genetic Variation - genetics
Genotype
Greece - epidemiology
Haplotypes - genetics
Humans
Male
Middle Aged
North America - epidemiology
Parkinson Disease - ethnology - genetics - metabolism
Polymorphism, Genetic - genetics
Abstract
Experimental and clinical data suggest that genetic variations in brain-derived neurotrophic factor (BDNF) gene may affect risk for Parkinson's disease (PD). We performed a case-control association analysis of BDNF in three independent Caucasian cohorts (Greek, North American, and Finnish) of PD using eight tagging SNPs and five constructed haplotypes. No statistically significant differences in genotype and allele frequencies were found between cases and controls in all series. A relatively rare BDNF haplotype showed a trend towards association in the Greek (p=0.02) and the Finnish (p=0.03) series (this haplotype was not detected in the North American series). However, given the large number of comparisons these associations are considered non-significant. In conclusion, our results do not provide statistically significant evidence that common genetic variability in BDNF would associate with the risk for PD in the Caucasian populations studied here.
PubMed ID
17229524 View in PubMed
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110 records – page 1 of 11.