Recently, a first direct estimate of the single base-pair substitution rate in the human germline was derived from genome-wide DNA sequence data. This result has shed new light upon the question of whether cutting-edge molecular genetic analysis could, in a paternity dispute, potentiate discrimination between two alleged fathers who are monozygotic (MZ) twins. Such paternity cases are not infrequent and usually receive a high level of public attention. We performed a ‘thought experiment’, the outcome of which strongly suggests that, by a combination of currently available laboratory techniques, paternity testing is indeed feasible in the context of MZ twins. Taking into consideration what is known about the biology of the human male germline, we would predict that >80% of the offspring of one twin brother would carry at least one germline mutation that would be detectable in the sperm of their father, but not in that of the other twin.
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Published online: December 16, 2011
Received: November 3, 2011
© 2011 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.