Screening of variants for lactase persistence-non-persistence in populations from South Africa and GhanaReportar como inadecuado

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BMC Genetics

, 10:31

First Online: 05 July 2009Received: 09 December 2008Accepted: 05 July 2009


BackgroundLactase 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.

ResultsThe 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.

ConclusionIdentification 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.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2156-10-31 contains supplementary material, which is available to authorized users.

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Autor: Suvi Torniainen - M Iqbal Parker - Ville Holmberg - Elisa Lahtela - Collet Dandara - Irma Jarvela


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