Objective: To study the genetic polymorphisms of the mitochondrial DNA (mtDNA) control region in Chengdu Han population.
Methods: Sequence polymorphisms of the mtDNA control region, hypervariable regions I and II from 100 unrelated Chinese Hans were determined by PCR and direct sequencing.
Results: Sequences of 404 nucleotides for hypervariable region I and 379 nucleotides for region II were obtained. Ninety-two and fifty variable sites were revealed in region I and region II respectively as compared to the reference sequence, and a total of 97 different genetic patterns from both the regions I and II were determined. The probability of identity was estimated at 1.84% for region I, 1.94% for region II, and 1.18% for both the regions.
Conclusion: These results suggest that sequence polymorphism of mtDNA control region would be very useful in forensic practice as a marker for individual identification.