[Haplotype and heteroplasmy in the HV II region of mtDNA in human blood detected by PCR-DGGE].

OBJECTIVE: To establish a simple and effective technique for detecting haplotype and heteroplasmy of mtDNA, and investigate their frequencies in Chinese Han population. METHODS: The fragments from 29-290 nt of mtDNA HV II from peripheral leukocytes of 200 unrelated Wuhan Han individuals were analyzed by using PCR-DGGE technique. RESULTS: Seventeen haplotypes were found in the range of 29-290 nt, and the haplotype diversity (HD) was 0.8844. The heterogeneity was observed from 4 individuals, and its frequency was 2%. CONCLUSION: PCR-DGGE is a simple, sensitive and effective technique in analyzing polymorphism and heteroplasmy of mtDNA, and can be used in forensic practice.