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07-24-2017, 01:44 PM
Legado Genético do Cromossoma Y Caracterização do haplogrupo J em amostras de origem portuguesa com foco na zona centro - 2014
Joana Isabel Silva de Albuquerque
Dissertação apresentada à Universidade de Coimbra para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Evolução e Biologia Humanas, realizada sob a orientação científica do Doutor Licínio Manco (Universidade de Coimbra).


Abstract - Portugal shows a particular interest in the genetic analysis of modern populations due to the complexity of its hist ory over the past two millennia, which involved a long-term stay of quite dist inct populations in terms of their geographical origin, religion and culture. The major contribution to the Por tuguese genetic legacy has been the Paleolithic settlement process from the Mi ddle East (Prehistory), however events such as the demic diffusion of agriculture in the Neoli thic and later, the presence of the celts in the Age of Iron, the phoenician and greek migrations, the roman occupation, the arrival of Jews, the germanic invasions and the presence of Ar ab-Berber, also appear to have contributed to the gene pool. The present study aimed to characteriz e the haplogroup J-M304 in a portuguese population sample in order to try to establish a re lationship between the presence of this haplogroup and its subtypes with historical or demographic events in the past. For this work, a sample of 324 males of portuguese nationality, with distribution through various regions of Portugal (mainly Central Zone) was studied for 12 Y-SNPs (M9, M304, M267, M172, M365, P56, P58, M410, M12, P55, M205, M241) and 7 Y- STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393). A frequency of 9,9% was found for haplogroup J-M304, in the total sample (324 individuals), of which 1,9% corresponds to J1-M267 and 8,0% to J2-M172. The study of a total of 56 indi viduals classified as J-M304 (32 from this study and 24 previously genotyped) allowed to identify in the sub-haplogroup J1-M267 at least three subtypes: J1*-M267 (21,1%), J1a1-M 365 (5,3%) and J1a2b-P58 (73,6%) and in the sub-haplogrupo J2-M172 two subtypes : J2a-M410 (75,7%) and J2b2-M241 (24,3%). The analysis of STRs revealed the pres ence of Phoenician colonization signals, previously described in the li terature, in three samples J1-M267 and J2-M172 from Beira Litoral, suggesting a possible influen ce of maritime expansions from the Middle East in this coastal region of the country. Three samples J1a2b-P58 showed to be compatible with a modal haplotype associate d with Jews. A sample from the Minho J1a1-M365 revealed an haplotype that app ears to be associated with Germanic or Alans migrations, probably with origin in the barbaric invasions post-fall of the Roman Empire. In conclusion, this study suggests that a more extensive haplotype analysis, as well as an increase sampling, may be re levant in further clarific ation of the various lineages of the Y-chromosome in Portuga l, and in particular for the haplogroup J-M304, confirming their likely historical origins. Key-words: Portugal, Haplogroup J- M304, Lineages, Historical Origin

https://estudogeral.sib.uc.pt/bitstream/10316/31095/1/Legado%20Gen%C3%A9tico%20do%20Cromossoma%20Y-Haplogrupo%20J%20-%20Joana%20Albuquerque.pdf