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Population Structure and History of the Sahel From the Point of View of Alcohol Metabolism
Jurišová, Lívia ; Černý, Viktor (advisor) ; Macholán, Miloš (referee)
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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Cryptic Rearrangements of Human Chromosomes Associated with Schizophrenia
Jurišová, Lívia ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Schizophrenia is a severe mental disorder with high heritability and complex genetics which interacts with environmental factors and leads to a wide range of symptoms. The emergence of modern cytogenetic and molecular genetic techniques has allowed uncovering one of the po- ssible causes - cryptic chromosomal rearrangements. The size of rearrangements, also known as microdeletions and microduplications, is under 3-5 Mb. Aberrations may affect multiple genes and their gene dosage. The research of cryptic rearrangements in association with schizophrenia began in 2008 with the identification of three pathogenic aberrations. Over time studies have identified more cryptic rearrangements and new studies supporting or not supporting their role in the disorder have been published. Research of the candidate genes and their possible interac- tions has also been conducted. It is hypothesized that schizophrenia is caused by pathologically changed brain connectivity, in which the changed gene dosage by cryptic rearrangements may play a role. The research is in its beginnings, and we can expect the identification of new rear- rangements. Further research may lead to a better understanding of the origin and symptoms of schizophrenia, and play a role in prenatal diagnostics and treatment. Key words: cryptic...
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