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Identification of g...
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Meuller, JohanGothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
(author)
Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.
- Article/chapterEnglish2004
Publisher, publication year, extent ...
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Mary Ann Liebert Inc,2004
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/52098
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https://gup.ub.gu.se/publication/52098URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-15495URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1951659URI
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https://doi.org/10.1089/gte.2004.8.248DOI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Large deletions in the APC (adenomatous polyposis coli) gene, causing familial adenomatous polyposis (FAP), cannot easily be detected by conventional mutation-detection techniques. Therefore, we have developed two independent quantitative methods for the detection of large deletions, encompassing one or more exons, of APC. Multiplex ligation-dependent probe amplification (MLPA) is performed in one reaction for the initial quantification of all APC exon copy numbers. Subsequently, quantitative real-time PCR (QRT-PCR) is used to verify the results obtained in the MLPA reaction. The identification of a deletion of the whole APC gene in a patient with classical FAP is described. The mutation was detected with the two quantitative methods and further verified on chromosomal level by the use of FISH (fluorescence in situ hybridization) on metaphase spreads. Furthermore, a large deletion covering exons 11-13 of the APC gene was detected in two apparently unrelated families. This deletion was further verified and characterized with long-range PCR. The MLPA test ensures a sensitive high-throughput screening for large deletions of the APC gene and can easily be implemented in the diagnostic testing for FAP.
Subject headings and genre
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Adenomatous Polyposis Coli
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diagnosis
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genetics
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Adenomatous Polyposis Coli Protein
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genetics
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Adult
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DNA Mutational Analysis
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methods
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Exons
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genetics
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Female
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Gene Deletion
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Gene Dosage
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Genes
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APC
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Humans
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In Situ Hybridization
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Fluorescence
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Karyotyping
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Male
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Middle Aged
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Polymerase Chain Reaction
Added entries (persons, corporate bodies, meetings, titles ...)
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Kanter-Smoler, GunillaGothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
(author)
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Nygren, AndersGothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xnyand
(author)
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Errami, AbdellatifGothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
(author)
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Grönberg, HenrikUmeå universitet,Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics,Onkologi
(author)
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Holmberg, EvaGothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
(author)
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Björk, JanKarolinska Institutet,Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics
(author)
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Wahlström, Jan,1939Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xwahja
(author)
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Nordling, Margareta,1962Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xnmarx
(author)
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Göteborgs universitetInstitutionen för kvinnors och barns hälsa, Avdelningen för pediatrik
(creator_code:org_t)
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In:Genetic testing: Mary Ann Liebert Inc8:3, s. 248-561090-65761557-7473
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Meuller, Johan
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Genetic testing
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University of Gothenburg
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Umeå University
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