2024-03-29T12:42:13Zhttps://www.tdx.cat/oai/requestoai:www.tdx.cat:10803/1110912017-08-29T16:17:55Zcom_10803_1col_10803_8
nam a 5i 4500
Genètica de poblacions humanes
Genética de poblaciones humanas
Human population genetics
Polimorfisme genètic
Polimorfismo genético
Genetic polymorphisms
Microsatèl·lit
Microsatélite
Microsatellite
Genetic variation of the X chromosome and the genomic regions of Coagulation Factors VII and XII in human populations: Epidemiological and evolutionary considerations
[Barcelona] :
Universitat de Barcelona,
2013
Accés lliure
http://hdl.handle.net/10803/111091
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Athanasiadis, Georgios,
autor
1 recurs en línia (219 pàgines)
Tesi
Doctorat
Universitat de Barcelona. Departament de Biologia Animal
2010
Universitat de Barcelona. Departament de Biologia Animal
Tesis i dissertacions electròniques
Moral Castrillo, Pedro,
supervisor acadèmic
TDX
In this work we have analyzed the variation of (i) several X chromosome polymorphic Alu insertions and (ii) several SNPs and microsatellites within and around the genomic regions of the genes coding for coagulation factors VII and XII (F7 and F12 respectively) in different human populations - mainly Mediterranean, but also from other geographic regions.
Alu polymorphisms are very useful for anthropological studies to investigate the origin and genetic relationships between different human populations. In addition, there are certain mutations in the F7 and F12 genes that affect plasma levels of coagulation factors VII and XII, as well as the risk of cardiovascular diseases, with a high epidemiological relevance.
The main conclusions of the thesis are the following:
1. Genetic differentiation among populations of northern Africa and southern Europe is low but significant.
2. For the same range of geographical distances in the Mediterranean, the genetic distances between populations from opposite coasts are longer than those between populations of the same coast, indicating that the Mediterranean may have acted as a barrier to gene flow between northern Africa and southern Europe.
3. Haplotype analysis of the F7 and F12 genomic regions has provided evidence of a higher sub-Saharan gene flow to northern Africa than to Southern Europe. This observation may be the result of the existence of a genetic barrier in the Mediterranean.
4. As shown by the principal component analysis, genetic differentiation between the studied populations in southern Europe is less pronounced than that in Africa.
5. Unlike previous studies, the genetic variation studied in this work showed that the Basques present no special genetic characteristics compared to other southern European populations.
6. According to the X chromosome Alu polymorphisms, the Egyptian Berbers from the Siwa Oasis appear as the most differentiated population within North African with a strong sub-Saharan influence.
7. The data indicate that, of all North African populations, the population of Monastir in Tunisia is genetically closest to Europe, possibly due to the historical background of the region and a less pronounced geographic isolation compared to other countries of northern Africa.
8. The genetic variation of both the X chromosome and, for the most part, the autosomal markers showed that the Berbers from the Maghreb (Asni and Khenifra) are significantly more differentiated among all North African populations.
9. The population distribution of the variation in the F7 gene promoter region shows no traits of positive selection in the Mediterranean region. On the contrary, there is strong evidence of positive selection in the indigenous population of Bolivia.
10. The lack of association between polymorphism FXII 46C> T and ischemic heart disease in the case-control study of Tunisia suggests that this polymorphism is not a universal risk factor for ischemic heart disease.
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