Populační struktura a historie sahelu z pohledu metabolismu alkoholu

Jurišová, Lívia

The Sahel is the northernmost part of sub-Saharan Africa. The Sahel is inhabited by a complex mixture of people, who differ in their ethnic background, language affiliation and lifestyle. The most important and most studied gene of ethanol metabolism, ADH1B, has been understudied in the Sahel region, mainly due to the low frequency of the variant rs1229984-T, which accelerates the first step of alcohol metabolism. Due to its non- African origin, the variant rs1229984-T represents a suitable marker for population history study. The eastern Sahel is where immigrants from Arabia have been settling and mating with African populations since the 7th century CE. To study population structure and history from the point of view of alcohol meta- bolism, we have used already known genotype data from fourteen Sahelian populations, which inhabit mainly the eastern part of the region. Due to the absence of the critical locus rs1229984 in the genotyping array, the samples have been subjected to sequen- cing. Combined data from the microarray and the sequencing constituted 26 loci of the ADH1B gene and its close periphery, which came from 318 samples. Genotypic data needed to be converted into their haplotypic form by a phasing prog- ram. To choose the more appropriate phasing program, the data have been arranged...

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