Mitochondrial DNA control region diversity in a population from Parana state—increasing the Brazilian forensic database

• Published in: International journal of legal medicine Vol. 133; no. 2; pp. 347 - 351
• Main Authors: Poletto, M. M., Malaghini, M., Silva, J. S., Bicalho, M.G., Braun-Prado, K.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2019; Springer Nature B.V
• Subjects: Brazil; Databases, Nucleic Acid; Deoxyribonucleic acid; DNA; DNA Fingerprinting; DNA, Mitochondrial - genetics; Ethnic Groups - genetics; Forensic engineering; Forensic Medicine; Gene sequencing; Genetic Variation; Genetics, Population; Haplotypes; Humans; Medical Law; Medicine & Public Health; Mitochondrial DNA; Original Article; Phylogeny; Polymerase Chain Reaction; Population; Population genetics; Sequence Analysis, DNA; Brazil; Brazil; Mitochondrial DNA; Parana; Forensic application; Control region; Genetic population data
• ISSN: 0937-9827; 1437-1596
• DOI: 10.1007/s00414-018-1886-5

The entire mitochondrial DNA (mtDNA) control region (nucleotide position 16024-576) sequences were obtained through Sanger sequencing method for 122 individuals from Parana state, South of Brazil. We observed a total of 108 different haplotypes of which 97 were unique and 11 were shared by more than one individual. The haplogroups were classified according to the updated mtDNA phylogeny, by EMMA (estimating mitochondrial haplogroups using a maximum likelihood approach). Our results revealed the predominance of Amerindian haplogroups with a frequency of 49.2% of the population sample, followed by European lineages with 38.5% and 12.3% of African lineages. Parana population sample set presented a high haplotype diversity (0.9976) and the random match probability was 0.0106. The phylogenetical findings and the diversity indices confirm the high genetic heterogeneity of this population and suggest a high informativeness of mtDNA analyses in forensic cases. The population data will contribute to increase the Brazilian mtDNA database for forensic purposes and it is available through EMPOP (European DNA Profiling Group mitochondrial DNA population database) under the accession number EMP00714.