The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africa

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dc.contributor.authorGrobbelaar, J. J.en_ZA
dc.contributor.authorOosthuizen, C. J. J.en_ZA
dc.contributor.authorMadden, M. V.en_ZA
dc.contributor.authorBailey, S. E.en_ZA
dc.contributor.authorRetief, A. E.en_ZA
dc.contributor.authorKotze, M. J.en_ZA
dc.date.accessioned2011-03-18T14:57:12Z
dc.date.available2011-03-18T14:57:12Z
dc.date.issued1995
dc.descriptionCITATION: Grobbelaar, J. J. 1995. The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africa. South African Medical Journal, 85(4):269-271.
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractHaplotype association studies were performed in 10 unrelated South African families and 1 German immigrant family with familial adenomatous polyposis (FAP). Three DNA probes, recognising five restriction fragment length polymorphisms (RFLPs) around the gene locus for FAP on chromosome 5q, were used. The RFLP analysis was informative or partially informative in all the families studied. Five haplotypes were found to segregate with the disease locus. The predominant association of two of these haplotypes with FAP in the South African families suggests that two mutations may cause the disease in about 70% of families in this population. Meiotic recombination events were detected between the FAP gene and probe M4 (D5S6), but not probes Pi227 (D5S37) and C11p11 (D5S71). Haplotype analysis allowed the preclinical diagnosis of FAP in 5 subjects.
dc.description.versionPublisher’s version
dc.format.extent3 pages
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7257
dc.language.isoen
dc.publisherHealth & Medical Publishing Group
dc.rights.holderSouth African Medical Journal
dc.subjectGenetic markersen_ZA
dc.subjectIntestinal polypsen_ZA
dc.titleThe use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africaen_ZA
dc.typeArticle
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