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- W2926311 abstract "Lactase persistence (LP) is the phenotypic trait in which lactase secretion is maintained during adulthood. LP is due to mutations in the LCT enhancer region, located 14-kb upstream of the gene. In Europeans, the 213910*T allele is associated with LP. In Africans this allele is rare while other mutations in this same region were related to LP. The LCT is highly polymorphic in human populations, but so far Brazilian Amerindians had not been investigated for these polymorphisms or for the presence of LP mutations. We describe the genetic diversity of the LCT region and the presence of LP enhancer mutations in four native Brazilian populations (Guarani-Kaiowa, Guarani–Nandeva, Kaingang, and Xavante). Twelve polymorphisms were genotyped by PCRbased methods. The 213910*T allele varied from 0.5% in the Xavante to 7.6% in the Guarani–Nandeva. These frequencies probably derive from European sources and they correlate with non-native admixture proportions previously estimated for these groups. But since admixture is virtually absent in the Xavante, we suggest that the presence of the LP allele could have been determined by a de novo mutation. No other mutations in the 214 kb enhancer region were found. The LCT was highly polymorphic in the present sample showing 15 haplotypes with a heterogeneous distribution among the four Amerindian populations. This diversity could be due to drift, as indicated by the neutrality test performed. Am J Phys Anthropol 147:427–432, 2012. VC 2012 Wiley Periodicals, Inc. Brazil was colonized by people of Asian origin, who arrived in the American continent through the Bering Strait about 15–18 thousand years ago (Salzano, 2011). These peoples spread all over North, Central, and South America and they are now known as Amerindians. At the time of the Conquest, the Spanish and Portuguese explorers found an aboriginal population estimated between 7 and 39 million individuals. Some societies depended heavily on agriculture, others practiced a mix of farming, fishing, hunting, and gathering whereas others were hunters and gatherers only (Salzano and Callegari-Jacques, 1988). Cattle were not present at that time; however it was introduced in the Americas by Columbus in his second trip in 1493, and in Brazil the first herds were brought by the Portuguese in 1534 (Primo, 1992). Polymorphisms across the 70-kb lactase gene (LCT) have been previously described (Boll et al., 1991; Harvey et al., 1995). The worldwide distribution of their derived haplotypes showed that four haplotypes (A, B, C, and U) were observed at frequencies higher than 0.05. Haplotype A is the most common in all populations except in Sub-Saharan Africans; it has its highest frequency in northern Europeans. The B haplotype is present in all populations except Bantu-speaking South Africans. Haplotype C is also present in all populations but it is more common in southern Europe and India whereas, the U haplotype is rare in Indo-European populations (Harvey et al., 1998; Hollox et al., 2001). Most human adults downregulate the production of intestinal lactase after weaning. Lactase is necessary for the digestion of lactose, the main carbohydrate in milk, and without it, milk consumption can lead to bloating, flatulence, cramps, and nausea (Swallow, 2003). Persistence of small-intestinal lactase production into adult life in humans is caused by genetic differences cis-acting near the lactase gene (Wang et al., 1995), which enables some alleles to escape the developmental downregulation characteristic of the ancestral state. The first allele to be identified, –13910*T (rs4988235) was discovered in a north-European sample and is in high linkage disequilibrium with 222018*A allele (Enattah et al., 2002). The 213910*T is present on the background of a single very extended Haplotype A (Hollox et al., 2001; Poulter et al., 2003; Bersaglieri et al., 2004; Coelho et al., 2005). The Additional Supporting Information may be found in the online version of this article. Grant sponsor: Conselho Nacional de Desenvolvimento Cientifico e Tecnologico, Brazil. *Correspondence to: Mara H. Hutz, Departamento de Genetica, UFRGS, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil. E-mail: mara.hutz@ufrgs.br Received 10 August 2011; accepted 7 December 2011 DOI 10.1002/ajpa.22010 Published online 23 January 2012 in Wiley Online Library (wileyonlinelibrary.com). VC 2012 WILEY PERIODICALS, INC. AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 147:427–432 (2012)" @default.
- W2926311 created "2016-06-24" @default.
- W2926311 creator A5054983324 @default.
- W2926311 date "2013-01-01" @default.
- W2926311 modified "2023-09-24" @default.
- W2926311 title "A diversidade do gene LCT e a persistência da lactase na população brasileira" @default.
- W2926311 cites W1500217459 @default.
- W2926311 cites W1521042820 @default.
- W2926311 cites W1522309202 @default.
- W2926311 cites W1525154324 @default.
- W2926311 cites W1546019010 @default.
- W2926311 cites W1560053074 @default.
- W2926311 cites W1563194043 @default.
- W2926311 cites W156358278 @default.
- W2926311 cites W1601516485 @default.
- W2926311 cites W1625892574 @default.
- W2926311 cites W1634871906 @default.
- W2926311 cites W1693854084 @default.
- W2926311 cites W1873130590 @default.
- W2926311 cites W1873390252 @default.
- W2926311 cites W1900495311 @default.
- W2926311 cites W1966106288 @default.
- W2926311 cites W1967430033 @default.
- W2926311 cites W1967672777 @default.
- W2926311 cites W1967972484 @default.
- W2926311 cites W1971312263 @default.
- W2926311 cites W1972009144 @default.
- W2926311 cites W1972327726 @default.
- W2926311 cites W1977954026 @default.
- W2926311 cites W1980805698 @default.
- W2926311 cites W1986704949 @default.
- W2926311 cites W1989977937 @default.
- W2926311 cites W1991812881 @default.
- W2926311 cites W1996427616 @default.
- W2926311 cites W1997010195 @default.
- W2926311 cites W1998347242 @default.
- W2926311 cites W2000380175 @default.
- W2926311 cites W2001311238 @default.
- W2926311 cites W2001686180 @default.
- W2926311 cites W2003113207 @default.
- W2926311 cites W2003923990 @default.
- W2926311 cites W2006731669 @default.
- W2926311 cites W2008027143 @default.
- W2926311 cites W2008406874 @default.
- W2926311 cites W2008524521 @default.
- W2926311 cites W2009733755 @default.
- W2926311 cites W2010666779 @default.
- W2926311 cites W2020232326 @default.
- W2926311 cites W2021553753 @default.
- W2926311 cites W2021594716 @default.
- W2926311 cites W2025779550 @default.
- W2926311 cites W2027641798 @default.
- W2926311 cites W2031164172 @default.
- W2926311 cites W2038089078 @default.
- W2926311 cites W2041965261 @default.
- W2926311 cites W2042551139 @default.
- W2926311 cites W2043181803 @default.
- W2926311 cites W2043748646 @default.
- W2926311 cites W2047923046 @default.
- W2926311 cites W2052550780 @default.
- W2926311 cites W2054118481 @default.
- W2926311 cites W2056322834 @default.
- W2926311 cites W2056963068 @default.
- W2926311 cites W2057354622 @default.
- W2926311 cites W2058251278 @default.
- W2926311 cites W2060407661 @default.
- W2926311 cites W2064716201 @default.
- W2926311 cites W2067991539 @default.
- W2926311 cites W2068332203 @default.
- W2926311 cites W2068690187 @default.
- W2926311 cites W2071129521 @default.
- W2926311 cites W2071634752 @default.
- W2926311 cites W2074543387 @default.
- W2926311 cites W2077812779 @default.
- W2926311 cites W2079681106 @default.
- W2926311 cites W2081300477 @default.
- W2926311 cites W2083514735 @default.
- W2926311 cites W2083700716 @default.
- W2926311 cites W2083878136 @default.
- W2926311 cites W2089117232 @default.
- W2926311 cites W2089854201 @default.
- W2926311 cites W2090919168 @default.
- W2926311 cites W2094018175 @default.
- W2926311 cites W2094614504 @default.
- W2926311 cites W2096758237 @default.
- W2926311 cites W2102482027 @default.
- W2926311 cites W2105258083 @default.
- W2926311 cites W2105551964 @default.
- W2926311 cites W2107064140 @default.
- W2926311 cites W2107788173 @default.
- W2926311 cites W2109630761 @default.
- W2926311 cites W2109860478 @default.
- W2926311 cites W2110389243 @default.
- W2926311 cites W2110755408 @default.
- W2926311 cites W2110814663 @default.
- W2926311 cites W2113525376 @default.
- W2926311 cites W2114928678 @default.
- W2926311 cites W2115843686 @default.
- W2926311 cites W2118078855 @default.
- W2926311 cites W2119486298 @default.