Lisbon population mtDNA analysis: study of a genetic marker with population, evolution and forensic interest

Afonso Costa, Heloísa; Amorim, António; Vieira da Silva, Cláudia; Porto, Maria João; Cunha, Eugénia; Lemos, Manuel Carlos; Corte Real, Francisco

http://hdl.handle.net/10400.26/44145

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Authors

Afonso Costa, Heloísa

Amorim, António

Vieira da Silva, Cláudia

Porto, Maria João

Cunha, Eugénia

Lemos, Manuel Carlos

Corte Real, Francisco

Abstract(s)

Mitochondrial DNA mtDNA is remarkable in population genetic studies to clarify the history and demographic past of human populations For forensic purposes mtDNA analysis is particularly useful when there are degraded or low-level DNA samples Nonetheless, only being in possession of the genetic reference data of the populations it is possible to attribute statistical weight to evidence in forensic casework.The National Institute of Legal Medicine and Forensic Sciences in Portugal carried out a study with the aim of portraying the genetic diversity of immigrants living in Lisbon However, the nonimmigrant population of Lisbon, the reference population, had not yet been studied The present study intends to determine the mtDNA variability of the Lisbon metropolitan native population. Among the 90 samples, 87 unique mtDNA haplotypes were identified It was verified that 32 of the haplotypes had no coincidence and 14 of the haplotype had only one coincidence on EMPOP database This low frequency of the majority of the haplotypes emphasizes the importance of studying this population The most frequent haplotypes, enclose haplogroups H 1 HV, K 1 R 0, and U 5 belonging predominantly to west Eurasian mtDNA Haplotypes that belong to Haplogroups L 0 L 1 L 2 L 3 were also identified in Lisbon population.