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

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dc.contributor.authorTorniainen, Suvien_ZA
dc.contributor.authorParker, M Iqbalen_ZA
dc.contributor.authorHolmberg, Villeen_ZA
dc.contributor.authorLahtela, Elisaen_ZA
dc.contributor.authorDandara, Colleten_ZA
dc.contributor.authorJarvela, Irmaen_ZA
dc.date.accessioned2015-11-04T12:00:02Z
dc.date.available2015-11-04T12:00:02Z
dc.date.issued2009en_ZA
dc.description.abstractBACKGROUND: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.identifier.apacitationTorniainen, 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. <i>BMC Genetics</i>, http://hdl.handle.net/11427/14687en_ZA
dc.identifier.chicagocitationTorniainen, Suvi, M Iqbal Parker, Ville Holmberg, Elisa Lahtela, Collet Dandara, and Irma Jarvela "Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana." <i>BMC Genetics</i> (2009) http://hdl.handle.net/11427/14687en_ZA
dc.identifier.citationTorniainen, 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.ris TY - Journal Article AU - Torniainen, Suvi AU - Parker, M Iqbal AU - Holmberg, Ville AU - Lahtela, Elisa AU - Dandara, Collet AU - Jarvela, Irma AB - 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. DA - 2009 DB - OpenUCT DO - 10.1186/1471-2156-10-31 DP - University of Cape Town J1 - BMC Genetics LK - https://open.uct.ac.za PB - University of Cape Town PY - 2009 T1 - Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana TI - Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana UR - http://hdl.handle.net/11427/14687 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/14687
dc.identifier.urihttp://dx.doi.org/10.1186/1471-2156-10-31
dc.identifier.vancouvercitationTorniainen S, Parker MI, Holmberg V, Lahtela E, Dandara C, Jarvela I. Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana. BMC Genetics. 2009; http://hdl.handle.net/11427/14687.en_ZA
dc.language.isoengen_ZA
dc.publisherBioMed Central Ltden_ZA
dc.publisher.departmentDivision of Medical Biochemistryen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis is an Open Access article distributed under the terms of the Creative Commons Attribution Licenseen_ZA
dc.rights.holder2009 Torniainen et al; licensee BioMed Central Ltd.en_ZA
dc.rights.urihttp://creativecommons.org/licenses/by/2.0en_ZA
dc.sourceBMC Geneticsen_ZA
dc.source.urihttp://www.biomedcentral.com/bmcgenet/en_ZA
dc.subject.otherLactase Persistenceen_ZA
dc.subject.otherOct-1 Transcription Factoren_ZA
dc.subject.otherLactase Non-persistenceen_ZA
dc.subject.otherMixed Ancestry Populationen_ZA
dc.subject.otherLactose Tolerance Testen_ZA
dc.subject.otherPersistence Traiten_ZA
dc.subject.otherLactase Persistence Alleleen_ZA
dc.subject.otherLactase Geneen_ZA
dc.subject.otherLCT Geneen_ZA
dc.subject.otherAfrien_ZA
dc.titleScreening of variants for lactase persistence/non-persistence in populations from South Africa and Ghanaen_ZA
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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