engleski

Complex kinship analysis in genetic identification of human remains: a case report

The generation of a DNA profile from human remains is an important part of the identification process. In order to identify the remains found near Zagreb, we applied autosomal STR and mitochondrial DNA analysis including complex kinship statistical evaluation. In this particular case, the female person disappeared in 2010 and the skeletal remains were found few years later. In 2017, our laboratory received the biological material. Three teeth were provided from remains and reference sample were obtained from three alleged siblings (one brother and two sisters) since parents were deceased. Genomic DNA was extracted according to the validated laboratory procedures. Nuclear DNA analysis was performed using GlobalFiler™ PCR Amplification Kit (Applied Biosystems). Statistical evaluation was based on Croatian national reference database using Familias v3.2 software. In addition, complete control region mitochondrial DNA (mtDNA) sequencing was carried out according to the ISFG recommendations. EDNAP Mitochondrial DNA Population Database (EMPOP) as a reference population database was used in the evaluation of mtDNA evidence. The unidentified person shared two alleles with alleged sibling(s) at 5 to 7 STR loci, one shared allele at 10 to 12 loci, and no shared alleles was observed at 3 loci. According to the STR profiles, the mutation at the D21S11 was detected in the DNA profile of one sibling. Statistical evaluation was performed by a pedigree likelihood ratio (LR) of the probability of DNA evidence under alternative hypothesis accounting 1-step mutation. Mitochondrial profiles included the brother and sisters as siblings of unknown female due to identical sequences (except one point heteroplasmy). The findings provided extremely strong evidence in favour of the hypothesis indicating full siblings as opposed to the alternative hypotesis.

mitochondrial DNA ; likelihood ratio ; kinship

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