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  • 1
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 319-323 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The PstI polymorphism detected by probe KM19 is a highly informative marker in linkage disequilibrium with the cystic fibrosis locus and has been used extensively for prenatal diagnosis. The currently available primers used for polymerase chain reaction- (PCR-) based analysis of this locus have been shown to produce spurious amplification products. In this report, we describe the sequence of the KM19 locus and the major contaminating PCR product. We have used this information to design a more specific amplification procedure for analysis of the KM19 locus.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: MHC class II alleles at human chromosome 6p21.1 and alleles in the TCR A/D locus at human chromosome 14q11.2 have been implicated in susceptibility to specific allergies and the modulation of total serum IgE. It has also been hypothesized that HLA and TCR allelic interactions may have a strong influence on predisposition to allergic disease.〈section xml:id="abs1-2"〉〈title type="main"〉ObjectiveThis study was performed to investigate the influence of HLA-DRB and DQB1 alleles and D14S50 alleles (adjacent to TCR A/D locus on 14q11.2), individually and in-combination, on total serum IgE levels, and on the development of specific allergies.〈section xml:id="abs1-3"〉〈title type="main"〉MethodsWe performed an association study between HLA-DRB, HLA-DQB1 polymorphisms, D14S50 alleles, total serum IgE expression and specific allergies to house dust mite, grass pollens and cat fur. A sample of 181 individuals was drawn from a larger set of 2415 adults, sampled at random from a district in Nottingham.〈section xml:id="abs1-4"〉〈title type="main"〉ResultsStrong association was observed between HLA-DRB1*0701 allele and high total serum IgE expression (P 〈 0.001). D14S50 alleles alone showed no evidence for independent association. However, there was a significant interaction between DRB1*0701 and D14S50 allele 170 such that, when both were present, there was a further increase in total serum IgE levels.〈section xml:id="abs1-5"〉〈title type="main"〉ConclusionThis study suggests that DRB1*0701 allele is involved in the modulation of total serum IgE, and that there is an interaction between DRB1*0701 and a marker adjacent to TCR A/D in the control of IgE expression.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford BSL : Blackwell Science Ltd
    Clinical & experimental allergy 28 (1998), S. 0 
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Linkage studies have provided evidence for the presence of gene(s) in the 5q cytokine cluster region which control total serum immunoglobulin E (IgE) concentration, and bronchial hyperreactivity (BHR). However, the identification of the gene(s) involved has been confounded by the lack of power of the published linkage studies and the presence of multiple candidate genes mapped to the region.〈section xml:id="abs1-2"〉〈title type="main"〉ObjectiveTo define the important loci on 5q31-33 which are implicated in the control of total serum IgE and BHR through a case/control study of association.〈section xml:id="abs1-3"〉〈title type="main"〉MethodsWe performed an association study between 11 polymorphic markers (spanning the region 5q31.1-33.1) and total serum IgE and BHR traits. A case/control sample of 181 individuals was drawn from a larger set of 2415 adults, sampled at random from a district in Nottingham, UK. Half of the subjects in this case/control sample were hyperreactive to methacholine and asthmatic (cases), while the other half were non-reactive and non-asthmatic (controls). Association analysis was performed using the non-parametric chi-squared and Mann–Whitney U-tests.〈section xml:id="abs1-4"〉〈title type="main"〉ResultsWe observed no evidence of strong allelic association between any of the above markers and the studied traits. Markers D5S404, interferon regulatory factor 1 (IRF-1) and D5S210 showed evidence of borderline association with BHR (P = 0.04, 0.03 and 0.04 respectively), and D5S404 showed borderline significance with IgE levels (P = 0.029).〈section xml:id="abs1-5"〉〈title type="main"〉ConclusionsThis study presents evidence against the presence of a strong association between markers mapped to 5q31-33 and either BHR or total serum IgE. The significance of the weaker associations observed with markers D4S404, IRF-1 and D5S210 is not clear. Whether this represents a type I error secondary to multiple hypothesis testing or a true association is uncertain.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have synthesised a mixed oligonucleotide 17 bases long and used it to isolate cDNA clones for apolipoprotein CI (apo CI) from an adult liver cDNA library. The partial sequence of one of these clones confirms its identity. We have used this probe and Southern blotting techniques to identify the human apo CI gene in DNA from a series of rodent x human somatic cell hybrids. Our Results provide evidence for the assignment of this gene to human chromosome 19.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1573-6849
    Keywords: β-catenin ; chromosome 3p ; lung cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract β-Catenin has emerged as an important component of the adherens junctions between epithelial cells. As a result of studies of its interaction with theAPC gene product, it has been implicated in the development of colorectal cancer. α-Catenin, β-catenin, E-cadherin and APC appear to mediate contact inhibition in epithelia. As part of the study of the organization of the β-catenin gene, we have isolated yeast artificial chromosomes (YACs) to characterize its intron/exon structure. YAC fluorescencein situ hybridization analysis and polymerase chain reaction analysis of somatic cell hybrid DNAs show that β-catenin maps in the 3p21–22 region, the location of tumour-suppressor genes deleted in small-cell lung cancer (SCLC) and other disorders. β-Catenin YACs will provide a source of microsatellite markers useful in loss of heterozygosity studies to assess the importance of β-catenin deletions in SCLC.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1569-8041
    Keywords: anaplastic large-cell lymphoma ; fluorescent in situ hybridization ; Hodgkin's disease ; Ki-1 lymphoma ; PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: Anaplastic large-cell lymphoma (ALCL) is a recently recognized, distinctive type of non-Hodgkin's lymphoma characterized by anaplastic large-cell cytology and expression of a member of the TNF-receptor family CD30. A characteristic chromosomal translocation has been identified in ALCL of T- or null-cell lineage which juxtaposes a novel tyrosine kinase (anaplastic lymphoma kinase, ALK) located at 2p23 with the nucleophosmin gene (NPM) at 5q35. A chimeric mRNA transcript is produced, and the translocation results in constitutive expression of a truncated form of the ALK protein, p80. There is controversy concerning whether or not the translocation occurs in Hodgkin's disease. The aim of this study was to develop a methodology for fluorescent in situ hybridization (FISH) to detect the t(2;5)(p23;q35), and to compare the results with conventional cytogenetics, reverse-transcriptase PCR and immunostaining for the p80protein. Patients and methods: Twenty-five cases of malignant lymphoma (11 ALCL and 14 HD) were studied. Immunohistochemistry was performed to confirm the diagnosis and for analysis of p80 expression. Conventional cytogenetics were analyzed on G-banded metaphase spreads. FISH was performed using whole chromosome paints for chromosomes 2 and 5 on metaphase spreads and YAC probes for inter phase nuclei. Reverse-transcriptase PCR using primers for ALK and NPM was used to amplify the translocation breakpoint in extracted mRNA. Results: Among 11 cases of ALCL examined by FISH, the translocation was detected in 4. Two of these cases also had RT-PCR and p80 staining performed, with positive results. Among 7 cases where the t(2;5) was not detected by FISH, 3 cases were examined by RT-PCR with negative results and4 cases by p80 staining, also negative. The RT-PCR was negative in all 14cases of Hodgkin's disease, 4 of which were also examined by FISH and found to be negative. Conclusion: Fluorescent in situ hybridization is useful method for detection of the t(2;5)(p23;q35) in anaplastic large-cell lymphoma. The results concur with those of RT-PCR for the chimeric transcript and immunostaining for the p80 protein. The frequency with which the translocation was found was 36% in this small series, and no evidence of the translocation was found in cases of Hodgkin's disease.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1569-8041
    Keywords: anaplastic large-cell lymphoma ; fluorescent in situ hybridization ; Hodgkin's disease ; Ki-1 lymphoma ; PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: Anaplastic large-cell lymphoma (ALCL) is a recentlyrecognized, distinctive type of non-Hodgkin's lymphoma characterized byanaplastic large-cell cytology and expression of a member of theTNF-receptor family CD30. A characteristic chromosomal translocation hasbeen identified in ALCL of T- or null-cell lineage which juxtaposes a noveltyrosine kinase (anaplastic lymphoma kinase, ALK) located at 2p23 with thenucleophosmin gene (NPM) at 5q35. A chimeric mRNA transcript is produced,and the translocation results in constitutive expression of a truncated formof the ALK protein, p80. There is controversy concerning whether or not thetranslocation occurs in Hodgkin's disease. The aim of this study was todevelop a methodology for fluorescent in situ hybridization (FISH) to detectthe t(2;5)(p23;q35), and to compare the results with conventionalcytogenetics, reverse-transcriptase PCR and immunostaining for the p80protein. Patients and methods: Twenty-five cases of malignant lymphoma (11 ALCLand 14 HD) were studied. Immunohistochemistry was performed to confirm thediagnosis and for analysis of p80 expression. Conventional cytogenetics wereanalyzed on G-banded metaphase spreads. FISH was performed using wholechromosome paints for chromosomes 2 and 5 on metaphase spreads and YACprobes for interphase nuclei. Reverse-transcriptase PCR using primers forALK and NPM was used to amplify the translocation breakpoint in extractedmRNA. Results: Among 11 cases of ALCL examined by FISH, the translocation wasdetected in 4. Two of these cases also had RT-PCR and p80 stainingperformed, with positive results. Among 7 cases where the t(2;5) was notdetected by FISH, 3 cases were examined by RT-PCR with negative results and4 cases by p80 staining, also negative. The RT-PCR was negative in all 14cases of Hodgkin's disease, 4 of which were also examined by FISH and foundto be negative. Conclusion: Fluorescent in situ hybridization is useful methodfor detection of the t(2;5)(p23;q35) in anaplastic large-cell lymphoma. Theresults concur with those of RT-PCR for the chimeric transcript andimmunostaining for the p80 protein. The frequency with which the translocationwas found was 36% in this small series, and no evidence of thetranslocation was found in cases of Hodgkin's disease.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have identified a novel ubiquitin conjugating enzyme gene, L-UBC, which maps to human Chromosome (Chr) 14q24.3. This is also the location of the major early onset familial Alzheimer's disease gene (FAD3). L-UBC encodes a protein that demonstrates homology to the yeast ubiquitin conjugating enzyme, UBC-4, and human UbcH5. Their functions are to ubiquitinate specific proteins targeted for degradation. The protein also exhibits very strong homology to a rabbit protein, E2-F1, which mediates p53 degradation driven by papilloma virus E6 protein in vitro. The accumulation of specific proteins that have undergone aberrant processing in neurofibrillary tangles and amyloid plaques is the classic pathological feature in brains of Alzheimer's disease patients. Abnormal ubiquitination has previously been suggested to play a role in the etiology of Alzheimer's disease. This gene therefore represents a plausible candidate gene for FAD3.
    Type of Medium: Electronic Resource
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