Cystic fibrosis in black patients: Western Cape experiences

dc.contributor.authorWestwood, Tony
dc.contributor.authorBrown, Ruth
dc.date.accessioned2017-07-28T06:32:43Z
dc.date.available2017-07-28T06:32:43Z
dc.date.issued2006
dc.date.updated2016-01-12T10:05:24Z
dc.description.abstractCystic fibrosis (CF) in non-American black Africans has only been described in case reports. CF was first reported in a South African black child with meconium ileus in 1959.1 Ten years later Levin and colleagues2 described twins born to a Sotho mother and a Zulu father. One twin had meconium ileus, the other had pancreatic insufficiency. Not long after the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989, molecular genetics proved that CF in Africa was a CFTR mutation-based disease. A study of 3 CF cases in black South Africans included clinical data and the results of a systematic investigation of the CFTR gene in each case.3 Four genes had the 3120+1G A mutation that is significantly prevalent in African Americans. Another carried a different mutation (G1249E) and the last carried a previously unidentified 54 base pair deletion in exon 17a.
dc.identifierhttp://dx.doi.org/10.7196/SAMJ.1092
dc.identifier.apacitationWestwood, T., & Brown, R. (2006). Cystic fibrosis in black patients: Western Cape experiences. <i>South African Medical Journal</i>, http://hdl.handle.net/11427/24815en_ZA
dc.identifier.chicagocitationWestwood, Tony, and Ruth Brown "Cystic fibrosis in black patients: Western Cape experiences." <i>South African Medical Journal</i> (2006) http://hdl.handle.net/11427/24815en_ZA
dc.identifier.citationWestwood, T., & Brown, R. (2006). Cystic fibrosis in black patients: Western Cape experiences. South African Medical Journal, 96(4), 288.
dc.identifier.ris TY - Journal Article AU - Westwood, Tony AU - Brown, Ruth AB - Cystic fibrosis (CF) in non-American black Africans has only been described in case reports. CF was first reported in a South African black child with meconium ileus in 1959.1 Ten years later Levin and colleagues2 described twins born to a Sotho mother and a Zulu father. One twin had meconium ileus, the other had pancreatic insufficiency. Not long after the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989, molecular genetics proved that CF in Africa was a CFTR mutation-based disease. A study of 3 CF cases in black South Africans included clinical data and the results of a systematic investigation of the CFTR gene in each case.3 Four genes had the 3120+1G A mutation that is significantly prevalent in African Americans. Another carried a different mutation (G1249E) and the last carried a previously unidentified 54 base pair deletion in exon 17a. DA - 2006 DB - OpenUCT DP - University of Cape Town J1 - South African Medical Journal LK - https://open.uct.ac.za PB - University of Cape Town PY - 2006 T1 - Cystic fibrosis in black patients: Western Cape experiences TI - Cystic fibrosis in black patients: Western Cape experiences UR - http://hdl.handle.net/11427/24815 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/24815
dc.identifier.vancouvercitationWestwood T, Brown R. Cystic fibrosis in black patients: Western Cape experiences. South African Medical Journal. 2006; http://hdl.handle.net/11427/24815.en_ZA
dc.language.isoeng
dc.publisher.departmentDepartment of Paediatrics and Child Healthen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.sourceSouth African Medical Journal
dc.source.urihttp://www.samj.org.za/index.php/samj
dc.titleCystic fibrosis in black patients: Western Cape experiences
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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