DGGE assay for heteroplasmy in mitochondrial DNA / 대한법의학회지

ABSTRACT

Heteroplasmy in the hypervariable region 1 of the mtDNA was screened using DGGE. Blood samples from 150 unrelated Koreans were used. Appropriate condition was set up using mixed samples with previously known HV1 sequences. This method is capable of detecting heteroplasmic proportion less than 5 %. Multiple bands pattern meaning heteroplasmy was observed in 41 individuals (27.3%). The majority of heteroplasmic variants could not be detected by direct sequencing of PCR products. For the distribution pattern of heteroplasmy in different tissues within one individual, 14 autopsy cases were screened. Out of these, two were heteroplasmic, but there was no difference between various tissues in the heteroplasmic DGGE band pattern.