Abstracts

Human Genome Diversity

Matrilineal inheritance, high number of copies per cell and high level of polymorphism make mitochondrial DNA (mtDNA) very informative and sometimes the only available instrument in forensic science. The efficiency in use of mtDNA in DNA-individualisation was already demonstrated both in cases of mass death in armed conflict and in confirming relationships. The information on mtDNA diversity is increasing now very intensively. However it necessary to have a clear conception of discriminative potential of this system and adequate referent haplotype database before using mtDNA in routine analysis.

To aim this goal we sequenced and analysed hypervariable segment I and hypervariable segment II (HVSI and HVSII) of mtDNA in random sample set of 250 unrelated individuals from different regions of Russia (without checking ethnic affiliation). We made separate analysis of discriminative potential of HVSI and HVSII and also analysis of discriminative potential of whole haplotypes consisted of both hypervariable segments. Obtained haplotype database was compared with published databases from other regions of Eurasia and also with our Russian HVSI database characterised before. The results of this comparison allowed us to formalise requirements to the referent mtDNA haplotype database.

1. In spite the high resolution of HVSI analysis, discriminative potential of this segment is insufficient for detailed individualisation even in small samples (<30 individuals). Therefore referent database should include information on both hypervariable segments (HVSI and HVSII).

2. Since the vast majority of revealed haplotypes occurred only once in studied sample, referent database should be large enough for statistically correct estimation of haplotype frequency. Thus database should include information on hundreds individuals.

3. The frequencies of many haplotypes was significantly different from thouse in our sample of Russians. For instance the percentage of asian-specific haplotypes in random sample was much higher than in sample of Russians. It allow us to conclude that referent database should not be ethnically homogenous, but should reflect real haplotype composition in mitochondrial gene pool of distinct area.

The obtained results is a base for creation of referent database for forensic purposes in Russia.

Note. Abstracts are published in author's edition

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