Identification of the remains of the Romanov family by DNA analysis

Abstract

Nine skeletons found in a shallow grave in Ekaterinburg, Russia, in July 1991, were tentatively identified by Russian forensic authorities as the remains of the last Tsar, Tsarina, three of their five children, the Royal Physician and three servants. We have performed DNA based sex testing and short tandem repeat (STR) analysis and confirm that a family group was present in the grave. Analysis of mitochondrial (mt) DNA reveals an exact sequence match between the putative Tsarina and the three children with a living maternal relative. Amplified mtDNA extracted from the remains of the putative Tsar has been cloned to demonstrate heteroplasmy at a single base within the mtDNA control region. One of these sequences matches two living maternal relatives of the Tsar. We conclude that the DNA evidence supports the hypothesis that the remains are those of the Romanov family.

Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings

“…The genetic approach was successful, for example, to check the verity of the death of the legendary outlaw Jesse James 3 or Louis XVII, the son of Louis XVI and Marie-Antoinette, who died during the French Revolution. 4,5 It also gave certainty about remains found at the burrial place of the Romanov family members, 6,7 about the biological relationship within the family of Austria's patron Saint Leopold III 8 and about the reliability and commercial value of religious relics during the Middle Ages. 9,10 The main drawback of the genetic identification of presumptive remains from historical figures is that the DNA within these samples is often degraded and that DNA contamination can mask the original DNA of the person.…”

Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette

“…2 We consider, R, that the mtDNA sequence is from MarieAntoinette and R' that the mtDNA sequence is from an unknown person. The likelihood ratio (LR) is defined as follows: LR = P(E|R)/P(E|R'), where the numerator P(E|R) is the probability that the hair sample belonged to MarieAntoinette (no mutation) and the denominator P(E|R') is the probability that the hair sample belonged to a random individual.…”

“…The likelihood ratio (LR) is defined as follows: LR = P(E|R)/P(E|R'), where the numerator P(E|R) is the probability that the hair sample belonged to MarieAntoinette (no mutation) and the denominator P(E|R') is the probability that the hair sample belonged to a random individual. The numerator can be evaluated in a manner analogous to Gill et al 2 -e -gm , where g = 2 generational events between the two sisters and Marie-Antoinette, and m = 1/33, the estimated mutation rate of the mtDNA sequence of the D-loop region according to Parsons et al 18 The denominator [P(E|R')] is simply the number of times an identical sequence is obtained in a pairwise database comparison of 100 British Caucasians 19 and 119 Belgian individuals (unpublished results) which resulted in 52 identical sequences in 11 900 comparisons.…”

“…1 Analysis of DNA extracted from bone has indeed been used successfully in the identification of the Romanov family 2 and of Josef Mengele. 3 Whilst nuclear polymorphisms provide the necessary information to establish paternal and maternal relationships, mtDNA analysis enables one to determine whether individuals are maternally related.…”

Do mitochondria recombine in humans?

“…Mitochondrial DNA has been used extensively in the reconstruction of phylogeny between and within species, and in the study of demography, particularly in humans. It is also being used increasingly in forensic science, particularly for the identi¢cation of deceased individuals, the Russian royal family being a prime example (Gill et al 1994).…”