DNA typing: an accessory evidence in doping control

A clear positive case for anabolic steroids doping was confounded by alleged urine tampering during doping control procedures. Review of the chain of custody showed no flaws, but nevertheless the athlete was adamant that the urine sample should be analyzed for DNA in order to support her contention that she was not the donor of the sample. The results obtained showed that the urine sample that scored positive for steroids contained nuclear DNA that could not be matched to the DNA obtained from the athlete's blood. On the other hand, the same urine sample contained mitochondrial DNA whose nucleotide sequences spanning the hyper variable regions HV1 and HV2 proved to be identical to those determined in mitochondrial DNA amplified from the athlete's blood. The occurrence of an extraneous genotype is compatible with exogenous nuclear DNA admixture to the athlete's urine. Alternatively, taking in consideration the mitochondrial DNA, we could not exclude that a sibling or a maternal relative of the athlete could have acted as a donor of the urine utilized for doping control and DNA analysis. Both situations point to possible tampering of the urine by the athlete. Adjudication at CAS maintained previous national and international federation decision that there was no proof of a chain of custody flaw to justify the athlete's allegation of urine substitution after collection.