DGGE assay for heteroplasmy in mitochondrial DNA.

Son, Jin Young; Choung, Chong Min; Lee, Yoon Seong; Lee, Jung Bin; Lee, Soong Deok

Original article

Korean Journal of Legal Medicine 2002;26(1):75-81.
Published online May 31, 2002.

DGGE assay for heteroplasmy in mitochondrial DNA.

Jin Young Son, Chong Min Choung, Yoon Seong Lee, Jung Bin Lee, Soong Deok Lee

Department of Forensic Medicine, Seoul National University College of Medicine, Korea. sdlee@snu.ac.kr

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.

Key Words: heteroplasmy, DGGE, HV1, Koreans