Differential distribution of human mitochondrial DNA in somatic tissues and hairs.

To investigate mitochondrial DNA (mtDNA) distribution within tissues during life, we observed length heteroplasmy in a polycytosine tract of the mitochondrial HV2 region by size-based separation of PCR products, using a mutagenic primer which was designed to avoid stutter production. Blood, brain, heart, liver, skeletal muscle and hair shaft samples were collected during autopsies of 25 individuals. Here, we demonstrate differences in the level of mtDNA length heteroplasmy both within and between individuals and tissues. We also show that mtDNA is distributed randomly in varying proportions in various somatic tissues during growth, resulting in an imbalance in the composition of mtDNA pools among tissues. This mtDNA distribution appears not to be strictly random, and can be explained by the random somatic segregation of nucleoids. On the other hand, significant qualitative/quantitative mtDNA peak pattern variations in hair shafts are thought to be a result of the different developmental origins of hairs. Each hair shaft may have a restricted or clonal set of mtDNA molecules derived from a discrete group of stem cells.

Selection of twenty-four highly informative SNP markers for human identification and paternity analysis in Koreans.

A number of DNA marker types suitable for human identification and parentage testing have been developed, of which single nucleotide polymorphisms (SNPs) merit attention as they are abundant, genetically stable, and amenable to high-throughput automated analysis. In this regard, 24 highly informative SNP markers representing each 22 autosome and both sex chromosomes were selected, and the allele and genotype frequencies of these SNPs were determined in a group composed of 30 unrelated Koreans. Based on frequency data from this group, the estimated probability of identity (P(I)) and probability of paternity exclusion (P(E)) with 22 autosomal SNP loci were 1.905x10(-10) and 98.9%, respectively. The SNPs in this study offer a small but highly accurate database that will be an essential reference for SNP-based forensic application in the future.

Five highly informative X-chromosomal STRs in Koreans.

The five X-chromosomal short tandem repeats (STRs) GATA172D05, HPRTB, DXS8377, DXS101 and HumARA were analyzed in 150 males and 150 females from Korea. Markers were amplified in a quadruplex and a monoplex PCR reaction with fluorescently labeled primers. For accurate and reproducible STR typing, sequenced allelic ladders were constructed and a Genotyper macro was programmed. Some differences were found on comparing the allele frequencies of Koreans with those of other populations in DXS8377, DXS101 and HumARA. The forensic efficiency parameters showed that the five X-linked STRs are highly informative for forensic application in Koreans.

Allele frequencies and haplotypes of six new Y-specific STR loci in Koreans.

Six Y-specific STR loci, DYS434, DYS435, DYS436, DYS437, DYS438, and DYS439 were analyzed in 300 unrelated Korean males using single multiplex PCR system.

Radiological analysis on a mummy from a medieval tomb in Korea.

Although naturally mummified corpses have frequently been found in medieval tombs of Korea, there have been no scientific reports on the physical status of the mummies. In this study, we first tried to investigate the mummy using radiological methods. On physical examination, there were no findings suggestive of the cause of the death. From the radiological studies, we found that some internal organs were well preserved, while the bones showed similar appearances to those of living cases. From the stage of development of the teeth and carpal bones, the age of the mummy was estimated to be 4.5 to 6.6 years old. Although the exact cause of the mummification could not be clearly elucidated, it may be due to the lime-soil mixture outside the outer coffin, completely sealing the inner coffin from the outer spaces. In this study, as the mummy in the medieval tomb has proved to be well preserved over the last 400 years, similar cases could give invaluable clues to the physical status of medieval Koreans.