Searching for a Genetic Relationship Between the Mitochondrial DNA and Y-chromosomal Polymorphisms

Paulina Wolańska-Nowak
Agnieszka Parys-Proszek
Witold Pepiński
Ireneusz Sołtyszewski

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Law and Forensic Science, Volume 15 (2018/1), pages 60-68.

Submitted: June 1, 2018.

The authors declare there is no conflict of interest.


Abstract: The present paper addresses the question of linkage disequilibrium (LD) between Y-chromosomal and mtDNA HVR1 distributions based on a population sample of southern Poland. Genetic independence of both polymorphisms would validate the use of the product rule in the assessment of matching probability, as is accepted for autosomal STRs.For this purpose, a total of 330 typed unrelated male samples were assigned to 17 Y-haplogroups, 32 mtDNA haplogroups, and 91 combined haplotypes(including 50 singletons). The average gene diversity for the two polymorphisms was 0.71045. The expected heterozygosity values were 0.69491 and 0.72598 for Y-chromosomalandmtDNA haplogroups, respectively.The exact test for pairwise LD indicated that there was no association between the analysed polymorphisms (median p-value=0.30781). The normalized entropy difference (NED) was0.02. These results prove lack of association between mitochondrial and Y-chromosomal markers and provide acceptable arguments for multiplying together likelihood ratios obtained from both genetic markers without any further assumptions.

Keywords: combined likelihood ratio,linkage disequilibrium, mtDNA, Y-chromosome, haplogroups, southern Poland

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