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161 records – page 1 of 17.

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
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Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.

https://arctichealth.org/en/permalink/ahliterature214634
Source
J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):178-81
Publication Type
Article
Date
Aug-1995
Author
G. Holmgren
L. Ozelius
L. Forsgren
B G Almay
M. Holmberg
P. Kramer
S. Fahn
X O Breakefield
Author Affiliation
Department of Clinical Genetics/Applied Cell and Molecular Biology, University Hospital, Umeå, Sweden.
Source
J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):178-81
Date
Aug-1995
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Chromosomes, Human, Pair 9
DNA - analysis
Dystonia Musculorum Deformans - genetics
Female
Genetic Linkage
Humans
Male
Middle Aged
Pedigree
Sweden
Abstract
A gene (DYT1) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYT1 gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYT1 in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalised forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYT1 locus as being responsible for dystonia in this family.
Notes
Cites: Am J Hum Genet. 1984 Mar;36(2):460-56585139
Cites: Mov Disord. 1994 Nov;9(6):626-327845403
Cites: Ann Neurol. 1989 Nov;26(5):612-202817837
Cites: Neuron. 1989 May;2(5):1427-342576373
Cites: Ann Neurol. 1990 Feb;27(2):114-202317008
Cites: Neurology. 1990 Jul;40(7):1107-102356013
Cites: Am J Hum Genet. 1991 Aug;49(2):366-711867195
Cites: Am J Hum Genet. 1992 Mar;50(3):619-281347197
Cites: Brain. 1993 Jun;116 ( Pt 3):739-448513401
Cites: Genomics. 1993 Sep;17(3):587-918244374
Cites: Nat Genet. 1993 Dec;5(4):386-918298648
Cites: Neurology. 1994 Feb;44(2):283-78309575
Cites: Clin Genet. 1994 Feb;45(2):88-928004804
Cites: Am J Hum Genet. 1994 Sep;55(3):468-758079990
Cites: Ann Neurol. 1994 Nov;36(5):771-77979224
Cites: Neurology. 1985 Jan;35(1):73-73966004
PubMed ID
7629534 View in PubMed
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Airway macrophages from patients with asthma do not proliferate.

https://arctichealth.org/en/permalink/ahliterature15993
Source
J Allergy Clin Immunol. 1993 Dec;92(6):869-77
Publication Type
Article
Date
Dec-1993
Author
P. Chanez
P. Vago
P. Demoly
L. Cornillac
P. Godard
J P Bureau
F B Michel
J. Bousquet
Author Affiliation
Clinique des Maladies Respiratoires and Contrat Jeune Formation INSERM 92-10, Montpellier, France.
Source
J Allergy Clin Immunol. 1993 Dec;92(6):869-77
Date
Dec-1993
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Animals
Antibodies, Monoclonal
Asthma - immunology - metabolism - pathology
Bronchoalveolar Lavage Fluid - cytology
Cell Cycle
DNA - analysis
Female
Humans
Immunohistochemistry
Ki-67 Antigen
Macrophages, Alveolar - chemistry - immunology - pathology
Male
Mice
Middle Aged
Neoplasm Proteins - immunology - metabolism
Nuclear Proteins - immunology - metabolism
Ploidies
Research Support, Non-U.S. Gov't
Abstract
BACKGROUND: Macrophages are involved in asthma, but their pulmonary turnover is unknown. We compared the ability of bronchoalveolar lavage (BAL) and bronchial macrophages to proliferate in normal subjects and patients with asthma. METHODS: BAL cells from eight patients with asthma and eight normal volunteers were separated with a discontinuous Percoll gradient (Pharmacia Fine Chemicals, Uppsala, Sweden). In a first experiment, nuclei of each alveolar macrophage (AM) fraction, stained with propidium iodide, were analyzed for DNA content with a flow cytometer, and the proportions of cells in the G0/G1, S, and G2 + M phases were determined. In a second experiment, expression of Ki-67-related antigen was sought on AMs by immunocytochemistry. Macrophages from 10 patients with asthma and 10 normal volunteers were studied in biopsy specimens by means of immunohistochemistry with a panmacrophage monoclonal antibody (HAM-56) and a monoclonal antibody against proliferating cell nuclear antigen. RESULTS: The proportions of BAL AMs in the different phases of the cell cycle were similar in normal subjects and patients with asthma for all fractions, and the percentage of cells in S and G2 +/- M phases ranged from 7.3% to 11.3%. Under 1% of BAL AMs expressed Ki-67-related antigen. None of the macrophages present in the biopsy specimens expressed proliferating cell nuclear antigen. CONCLUSIONS: This study does not indicate that an important source of airway macrophages is local proliferation.
PubMed ID
8258621 View in PubMed
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[A method for differential cytolysis in the molecular genetic expert identification of material evidence: problems in optimizing the procedure].

https://arctichealth.org/en/permalink/ahliterature213534
Source
Sud Med Ekspert. 1996 Jan-Mar;39(1):16-21
Publication Type
Article
Author
L I Gyské
P L Ivanov
Source
Sud Med Ekspert. 1996 Jan-Mar;39(1):16-21
Language
Russian
Publication Type
Article
Keywords
Cell Fractionation - methods
DNA - analysis - isolation & purification
Electrophoresis, Agar Gel
Expert Testimony - methods - standards
Forensic Medicine - methods - standards - statistics & numerical data
Humans
Male
Polymerase Chain Reaction - methods - standards - statistics & numerical data
Regression Analysis
Russia
Spermatozoa - chemistry - ultrastructure
Abstract
The authors discuss the problem of selective derivation of the genetic material of spermatozoa for molecular genetic identification from mixed biological traces containing sperm on material evidence. Possible methods of improving the efficacy of differential lysis of cells present in mixed traces are analyzed. Effects of some routinely used extractants on biological substrata, most often contaminating the sperm in expert material, have been studied, and conditions for their most complete elimination from objects of investigation optimized.
PubMed ID
8669057 View in PubMed
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Amplification of HER-2(erbB-2/neu) oncogene as the most significant prognostic factor in a group of Russian breast cancer patients.

https://arctichealth.org/en/permalink/ahliterature222515
Source
Neoplasma. 1993;40(1):35-9
Publication Type
Article
Date
1993
Author
E N Imyanitov
O I Chernitsa
O M Serova
I F Nikoforova
G F Pluzhnikova
P G Knyazev
Author Affiliation
N.N. Petrov Research Institute of Oncology, Laboratory of Molecular Genetics of Cancer, St. Petersburg, Russia.
Source
Neoplasma. 1993;40(1):35-9
Date
1993
Language
English
Publication Type
Article
Keywords
Blotting, Northern
Blotting, Southern
Breast Neoplasms - genetics - pathology
Chi-Square Distribution
Chromosomes, Human, Pair 17
DNA - analysis - isolation & purification
Female
Follow-Up Studies
Gene Amplification
Gene Expression Regulation, Neoplastic
Genes, p53
Humans
Menopause
Middle Aged
Oncogene Proteins v-erbB
Oncogene Proteins, Viral - genetics
Oncogenes
Prognosis
RNA - analysis - isolation & purification
Receptor, erbB-2
Receptors, Estrogen - biosynthesis
Receptors, Progesterone - biosynthesis
Retroviridae Proteins, Oncogenic - genetics
Russia
Transcription, Genetic
Abstract
Amplification of HER-2(erbB-2/neu) oncogene was detected in 36 of 142 (25%) breast carcinomas (BC) RNA expression was examined in 42 carcinomas, in 10 of them overexpression was revealed. Amplification was matched by overexpression. No association was found between the increased number of HER-2(erbB-2/neu) copies and tumor size, lymph node involvement, stage of disease, age of onset, and estrogen and progesterone receptor level. HER-2(erbB-2/neu) amplification was shown to be of independent prognostic significance in the group of 32 BC patients with sufficient follow-up (more than 40 months). Six of 7 HER-2(erbB-2/neu) amplification-positive patients and only 2 of 25 HER-2(erbB-2/neu) amplification-negative ones relapsed (p
PubMed ID
7688867 View in PubMed
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Analysis of a Danish Caucasian population sample of single locus DNA-profiles. Allele frequencies, frequencies of DNA-profiles and heterozygosity.

https://arctichealth.org/en/permalink/ahliterature221197
Source
Forensic Sci Int. 1993 May;59(2):119-29
Publication Type
Article
Date
May-1993
Author
B. Eriksen
O. Svensmark
Author Affiliation
Institute of Forensic Genetics, University of Copenhagen, Denmark.
Source
Forensic Sci Int. 1993 May;59(2):119-29
Date
May-1993
Language
English
Publication Type
Article
Keywords
Bias (epidemiology)
DNA - analysis
Databases, Factual
Denmark
European Continental Ancestry Group - genetics
Evaluation Studies as Topic
Forensic Medicine
Gene Frequency
Heterozygote Detection
Homozygote
Humans
Models, Genetic
Polymorphism, Restriction Fragment Length
Repetitive Sequences, Nucleic Acid
Abstract
The frequency distributions of the length of restriction fragments (HinfI) revealed by RFLP-analysis (restriction fragment length polymorphism) of blood samples from 482 Danish Caucasians using the single locus VNTR (variable number of tandem repeats) probes MS1, MS31, MS43a and YNH24 are reported. From two blood samples three fragments were obtained with MS1. The consistency of the characteristic allele frequency distribution for each probe is exemplified by comparing the accumulated frequency curves obtained with MS43a in samples consisting of 50 and 920 bands, respectively. The distribution of the differences in migration distance for the two fragments of a bandpair was investigated. The results suggest that the high frequency of apparent homozygotes observed is due mainly to coalescence of close heterozygotes. The distribution of frequencies of 437 DNA-profiles is reported.
PubMed ID
8101176 View in PubMed
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Analysis of allele distribution for six short tandem repeat loci in the French Canadian population of Qu├ębec.

https://arctichealth.org/en/permalink/ahliterature207194
Source
J Forensic Sci. 1997 Nov;42(6):1147-53
Publication Type
Article
Date
Nov-1997
Author
L. Busque
D. Desmarais
S. Provost
J W Schumm
Y. Zhong
R. Chakraborty
Author Affiliation
Centre de Recherche Guy Bernier, Hôpital Maisonneuve-Rosemont, Montréal, Québec, Canada.
Source
J Forensic Sci. 1997 Nov;42(6):1147-53
Date
Nov-1997
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Child
DNA - analysis
Electrophoresis, Polyacrylamide Gel
European Continental Ancestry Group - genetics
Female
France - ethnology
Gene Frequency - genetics
Genetic Markers - genetics
Humans
Male
Paternity
Polymerase Chain Reaction
Polymorphism, Genetic
Quebec - epidemiology
Repetitive Sequences, Nucleic Acid - genetics
Sequence Analysis, DNA
Abstract
Short tandem repeat (STR) loci represent a rich source of highly polymorphic markers in the human genome which are useful for the purposes of forensic identification and determination of biological relatedness of individuals. Here, as a part of an ongoing extensive study, we report the analysis of a multilocus genotype survey of 642 to 870 chromosomes in the French Canadian Caucasian population of Québec at six STR loci. The loci HUMCSF1PO, HUMTPOX, HUMTH01, HUMF13A01, HUMFESFPS, and HUMvWA were typed using two multiplex polymerase chain reactions (PCR). Amplified DNA samples were subsequently analyzed by polyacrylamide gel electrophoresis followed by silver staining. The heterozygote frequencies of the loci range from 0.614 to 0.820 (0.661 to 0.818 expected) and the number of alleles from 7 to 12 per locus. Although statistically significant deviation from Hardy-Weinberg expectations of genotype frequencies was noted at some loci by one or more tests, in general, the genotype frequencies are well estimated from the product of allele frequencies at all loci. The most frequent six-locus genotype is expected to occur in the French Canadian population with a frequency of 3.50 by 10(-5) and together, these six loci have an average probability of discrimination of 0.9999985. The study presented here indicates that these six STR loci are informative genetic markers for identity testing purposes in the French Canadian Caucasian population of Québec.
PubMed ID
9397560 View in PubMed
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Analysis of HLA-DRB1 polymorphism in the Gidra of Papua New Guinea.

https://arctichealth.org/en/permalink/ahliterature198675
Source
Hum Biol. 2000 Apr;72(2):337-47
Publication Type
Article
Date
Apr-2000
Author
J. Ohashi
M. Yoshida
R. Ohtsuka
M. Nakazawa
T. Juji
K. Tokunaga
Author Affiliation
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Hongo, Japan.
Source
Hum Biol. 2000 Apr;72(2):337-47
Date
Apr-2000
Language
English
Publication Type
Article
Keywords
African Continental Ancestry Group - genetics
DNA - analysis
Female
Gene Frequency
Genetics, Population
HLA-DR1 Antigen - genetics
Humans
Male
Oceanic Ancestry Group - genetics
Papua New Guinea
Polymorphism, Genetic - genetics
Population Surveillance
Rural Population
Sampling Studies
Abstract
The genetic structure of the Gidra-speaking population inhabiting 13 villages in Papua New Guinea was investigated, based on the analysis of HLA-DRB1 polymorphism. Nei's fixation indices (F(IS), F(IT), and F(ST)) showed that the Gidra villages were genetically differentiated. The genetic distances significantly correlated with the geographic distances among the 13 villages. Thus, it is likely that a low intervillage migration rate has been maintained since the Gidra community was established. Correspondence analysis revealed that the Gidra, who belong to non-Austronesian-speaking groups, are genetically located at the intermediate point between the Aboriginal Australian groups and the Austronesian-speaking groups. Moreover, the HLA-DRB1*0802 allele, which has been observed in only two Polynesian groups (Austronesian-speaking groups) of Oceanian populations, was also found in the Gidra. These results suggest that the admixture of Austronesian and indigenous non-Austronesian groups beyond the linguistic boundary occurred partly in Papua New Guinea before Austronesian groups spread to the Pacific.
PubMed ID
10803664 View in PubMed
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Analysis of the locus D1S80 by amplified fragment length polymorphism technique (AMP-FLP). Frequency distribution in Danes. Intra and inter laboratory reproducibility of the technique.

https://arctichealth.org/en/permalink/ahliterature36248
Source
Forensic Sci Int. 1993 Jun;60(1-2):47-56
Publication Type
Article
Date
Jun-1993
Author
M. Thymann
L J Nellemann
G. Masumba
L. Irgens-Møller
N. Morling
Author Affiliation
Institute of Forensic Genetics, University of Copenhagen, Denmark.
Source
Forensic Sci Int. 1993 Jun;60(1-2):47-56
Date
Jun-1993
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Child
DNA - analysis
Denmark
European Continental Ancestry Group - genetics
Female
Humans
Male
Mothers
Paternity
Phenotype
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Reproducibility of Results
Abstract
DNA from the locus D1S80 was amplified by polymerase chain reaction (PCR) and analyzed by electrophoresis in vertical polyacrylamide gels followed by silverstaining. DNA samples from 119 unrelated Danes and 97 mother/child pairs were examined. The amplified fragment length polymorphism (AMP-FLP) analysis of the D1S80 locus demonstrated 21 alleles and a heterozygosity of 77%. Of the 231 possible phenotypes, 57 were observed. All mother/child pairs shared at least one D1S80 allele. The D1S80 typing results in 70 Danes were compared to the results obtained on the same samples in another laboratory and the results were concordant in all cases.
PubMed ID
8101829 View in PubMed
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Analysis of the macrophage scavenger receptor 1 gene in Swedish hereditary and sporadic prostate cancer.

https://arctichealth.org/en/permalink/ahliterature17838
Source
Prostate. 2004 May 1;59(2):132-40
Publication Type
Article
Date
May-1-2004
Author
Fredrik Lindmark
Björn-Anders Jonsson
Anders Bergh
Pär Stattin
S Lilly Zheng
Deborah A Meyers
Jianfeng Xu
Henrik Grönberg
Author Affiliation
Department of Radiation Sciences, Oncology, University of Umeå, Umeå, Sweden.
Source
Prostate. 2004 May 1;59(2):132-40
Date
May-1-2004
Language
English
Publication Type
Article
Keywords
Aged
Case-Control Studies
Cell Adhesion Molecules
Chromosomes, Human, Pair 8 - genetics
DNA - analysis
DNA Mutational Analysis
Genotype
Humans
Male
Middle Aged
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Prostatic Neoplasms - genetics
Receptors, Immunologic - genetics
Receptors, Scavenger
Research Support, Non-U.S. Gov't
Risk factors
Scavenger Receptors, Class A
Sweden
Abstract
BACKGROUND: The macrophage scavenger receptor 1 (MSR1) gene on chromosome 8p22 was recently reported as a candidate gene for hereditary prostate cancer (HPC). Here, we further elucidate the role of MSR1 in both Swedish families with HPC and in a cohort of unselected prostate cancer. METHODS: DNA samples from 83 Swedish HPC families and 215 unselected population based cases of prostate cancer as well as 425 age-matched controls were genotyped. RESULTS: A total of 18 variants were identified, including 2 exonic, 7 intronic changes, and 9 changes in the 5'- or 3'-uncoding region. Of the two exonic changes, one previously reported truncation mutation was identified, a R293X nonsense mutation. This mutation was found in 2 of the 83 (2.4%) HPC families. The R293X mutation was found more frequently in men with PC (4.9%) than in unaffected men (2.7%), consistent with previous published results, however our results were not significant (P = 0.16). To additionally test for potential association of common sequence variants and increased risk for the disease, five common polymorphisms (PRO3, INDEL1, IVS5-57, P275A, INDEL7) were genotyped in the group of 215 prostate cancer cases and 425 age-matched controls. No association between any of the five common sequence variants and prostate cancer were found. CONCLUSION: Our results suggest that mutations in MSR1 gene might play a role in prostate cancer susceptibility, particularly the R293X mutation. This study warrants further investigations of the role of MSR1 in prostate cancer etiology.
PubMed ID
15042613 View in PubMed
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161 records – page 1 of 17.