Highlights
- •A mtDNA full genome sequence database is described for a Southern Brazilian population.
- •Removal of potentially pathogenic variants has a small impact on the database forensic discrimination ability.
- •No association between haplotype biogeographical origin and self-declared ancestry was identified.
- •Maternal lineages are not sufficient to efficiently predict hair, skin, and eyes pigmentation traits.
Abstract
Background:
The advent of massively parallel sequencing (MPS) applications focused on the generation
of forensic-quality full mitochondrial genome sequences led to a popularization of
the technique on a global scale. However, the lack of forensic-graded population databases
has refrained a wider adoption of full genome sequences as the industry standard,
despite its better discrimination capacity of individual maternal lineages.
Purpose:
This work describes a forensic-oriented full mtDNA genome database comprised of 480
samples from a Southern Brazilian population.
Methods:
A collection of mitochondrial sequences were obtained from low-pass, full genome DNA
sequencing results. The complete sample set was evaluated regarding haplotype composition
and distribution. Summary statistics and forensic parameters were calculated and are
presented for the database, with detailed information concerning the impact of removing
genetic information in the form of specific variants or increasingly larger genomic
regions. Interpopulational analysis comparing haplotypical diversity in Brazilian
and 26 worldwide populations was also performed. The association between mitochondrial
genetic variability and phenotypic diversity was also evaluated in populations, with
self-declared ancestry and three distinct phenotypic pigmentation traits (eyes, skin
and hair colors) as parameters.
Results:
The presented database can be used to evaluate mitochondrial-related genetic evidence,
providing LR values of up to 20,465 for unobserved haplotypes. Haplotype distribution
in Southern Brazil seems to be different than the remaining of the country, with a
larger contribution of maternal lines with European origin. Despite association can
be found between lighter and darker phenotypes or self-declared ancestry and haplotype
distribution, prediction models cannot be reliably proposed due to the admixed nature
of the Brazilian population.
Conclusions:
The proposed database provides a basis for statistical calculation and frequency estimation
of full mitochondrial genomes, and can be part of an integrated, representative, national
database comprising most of the genetic diversity of maternal lineages in the country.
Keywords
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Article info
Publication history
Published online: December 20, 2021
Accepted:
December 1,
2021
Received:
October 22,
2021
Identification
Copyright
© 2021 Elsevier B.V. All rights reserved.
