The Causal Element for the Lactase Persistence/ non‐persistence Polymorphism is Located in a 1 Mb Region of Linkage Disequilibrium in Europeans

@article{Poulter2003TheCE,
  title={The Causal Element for the Lactase Persistence/ non‐persistence Polymorphism is Located in a 1 Mb Region of Linkage Disequilibrium in Europeans},
  author={Mark Poulter and Edward J. Hollox and C. B. Harvey and Charlotte A. Mulcare and Katri Peuhkuri and Kajsa Kajander and Martin Sarner and Riitta Korpela and D. M. Swallow},
  journal={Annals of Human Genetics},
  year={2003},
  volume={67}
}
Expression of lactase in the intestine persists into adult life in some people and not others, and this is due to a cis‐acting regulatory polymorphism. Previous data indicated that a mutation leading to lactase persistence had occurred on the background of a 60 kb 11‐site LCT haplotype known as A ( Hollox et al. 2001 ). Recent studies reported a 100% correlation of lactase persistence with the presence of the T allele at a CT SNP at −14 kb from LCT, in individuals of Finnish origin, suggesting… 
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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Evolutionary and molecular genetics of regulatory alleles responsible for lactase persistence
TLDR
The results show that different mechanisms lead to a disruption of the normal down-regulation of lactase in adult life, and the finding of an extended region of high linkage disequilibrium in all populations, and an extended B haplotype is discussed in relation to the methods to study selection.
Lactose digestion and the evolutionary genetics of lactase persistence
TLDR
Access is provided to a database of worldwide distributions of lactase persistence and of the C-13910*T allele, as well as reviewing lactase molecular and population genetics and the role of selection in determining present day distributions of the lactases persistence phenotype.
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TLDR
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TLDR
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