Sequence polymorphism of mitochondrial DNA control region in Japanese

Sequence polymorphisms of the mitochondrial DNA (mtDNA) control region, hyp ervariable regions I and II, from 100 unrelated Japanese were determined by PCR amplification and direct sequencing. Sequences of 404 nucleotides for hypervariable region I and 379 nucleotides for region II were obtained. Var iable sites (85 and 45) were revealed in region I and region II, respective ly, as compared to the reference sequence, and a total of 96 different gene tic patterns from both regions I and II were determined. A point mutation h eteroplasmy was observed at the ratio of approximately 50:50 from one indiv idual at the sequence position 151 showing a nucleotide transition from C t o T. The probability of identity was estimated as 2.3% for region I, 3.9% f or region II, and 1.1% combined for both regions. These results suggest tha t sequence polymorphism of mtDNA control region would be very useful in for ensic practice as a marker for individual identification. (C) 1998 Elsevier Science Ireland Ltd. All rights reserved.