Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana

 

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dc.contributor.author Torniainen, Suvi en_ZA
dc.contributor.author Parker, M Iqbal en_ZA
dc.contributor.author Holmberg, Ville en_ZA
dc.contributor.author Lahtela, Elisa en_ZA
dc.contributor.author Dandara, Collet en_ZA
dc.contributor.author Jarvela, Irma en_ZA
dc.date.accessioned 2015-11-04T12:00:02Z
dc.date.available 2015-11-04T12:00:02Z
dc.date.issued 2009 en_ZA
dc.identifier.citation Torniainen, S., Parker, M. I., Holmberg, V., Lahtela, E., Dandara, C., & Jarvela, I. (2009). Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana. BMC genetics, 10(1), 31. en_ZA
dc.identifier.uri http://hdl.handle.net/11427/14687
dc.identifier.uri http://dx.doi.org/10.1186/1471-2156-10-31
dc.description.abstract BACKGROUND:Lactase non-persistence is a condition where lactase activity is decreased in the intestinal wall after weaning. In European derived populations a single nucleotide polymorphism (SNP) C/T-13910 residing 13.9 kb upstream from the lactase gene has been shown to define lactase activity, and several other single nucleotide polymorphisms (G/C-14010 T/G-13915, C/G-13907 and T/C-13913) in the same region have been identified in African and Middle East populations. RESULTS: The T-13910 allele most common in European populations was present in 21.8% mixed ancestry (N = 62) individuals and it was absent in the Xhosa (N = 109) and Ghana (N = 196) subjects. Five other substitutions were also found in the region covering the previously reported variants in African and Middle East populations. These included the G/C-14010 variant common in Kenyan and Tanzanian populations, which was present in 12.8% of Xhosa population and in 8.1% of mixed ancestry subjects. Two novel substitutions (C/T-14091 and A/C-14176) and one previously reported substitution G/A-13937 (rs4988234) were less common and present only in the Xhosa population. One novel substitution G/A-14107 was present in the Xhosa and Ghanaian populations. None of the other previously reported variants were identified. CONCLUSION: Identification of the G/C-14010 variant in the Xhosa population, further confirms their genetic relatedness to other nomadic populations members that belong to the Bantu linguistic group in Tanzania and Kenya. Further studies are needed to confirm the possible relationship of the novel substitutions to the lactase persistence trait. en_ZA
dc.language.iso eng en_ZA
dc.publisher BioMed Central Ltd en_ZA
dc.rights This is an Open Access article distributed under the terms of the Creative Commons Attribution License en_ZA
dc.rights.uri http://creativecommons.org/licenses/by/2.0 en_ZA
dc.source BMC Genetics en_ZA
dc.source.uri http://www.biomedcentral.com/bmcgenet/ en_ZA
dc.subject.other Lactase Persistence en_ZA
dc.subject.other Oct-1 Transcription Factor en_ZA
dc.subject.other Lactase Non-persistence en_ZA
dc.subject.other Mixed Ancestry Population en_ZA
dc.subject.other Lactose Tolerance Test en_ZA
dc.subject.other Persistence Trait en_ZA
dc.subject.other Lactase Persistence Allele en_ZA
dc.subject.other Lactase Gene en_ZA
dc.subject.other LCT Gene en_ZA
dc.subject.other Afri en_ZA
dc.title Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana en_ZA
dc.type Journal Article en_ZA
dc.rights.holder 2009 Torniainen et al; licensee BioMed Central Ltd. en_ZA
uct.type.publication Research en_ZA
uct.type.resource Article en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Division of Medical Biochemistry en_ZA
uct.type.filetype Text
uct.type.filetype Image


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This is an Open Access article distributed under the terms of the Creative Commons Attribution License Except where otherwise noted, this item's license is described as This is an Open Access article distributed under the terms of the Creative Commons Attribution License