Analysis of Five Coding Region Polymorphism in Mitochondrial DNA / 대한법의학회지

For evaluation of the five coding region (CR) polymorphism in mitochondrial DNA (mtDNA); we had performed PCR and direct sequencing in 599 unrelated Korean who showed the identical DNA type in D-loop mitochondrial DNA analysis for total 2,810 bp fragment. Following the sequence analysis, all the sequences of five regions were compared respectively to Anderson standard sequence to investigate the nucleotide variations. The result showed, a total 4,565 nucleotide variations were observed at 190 positions in five CR as 3,931 (86.11%) substitutions, 32 (0.7%) insertions, and 602 (13.19%) deletions and the allele diversities (h) were higher than 0.9992 when adding each CR or combined CR to D-loop analysis in mtDNA. In conclusion, we could confirm the five CR are useful for forensic testing through the nucleotide variation and hapolotypes polymorphism.

Polymorphism and Haplotypes of 10 Y-STR Loci in Koreans / 대한법의학회지

Ten Y chromosomal STRs (DYS434, DYS435, DYS437, DYS438, DYS439, DYS441, DYS442, DYS443, DYS444, DYS445) have been typed in 1159 Korean males for the purpose of application to male identification, population genetics and evolution study. Multiplex PCR method was used in amplifying simultaneously these loci. In each locus, 3-8 allele were observed, and no 'interallele' was observed. The gene diversity varied from 0.3131 at DYS435 to 0.7179 at DYS441. Among 610 father-son pairs, mutation was observed 2 cases in DYS434, 1 case in DYS435, 3 cases in DYS437, 1 case in DYS439, 2 cases in DYS441, 1 case in DYS442 and 4 cases in DYS444. No two or more simultaneous mutations were identified in one father-son family pair. In 1159 Korean males, 641 different haplotypes were observed, and 488 haplotypes were not shared by others. The haplotype diversity was 0.9911, Probability of Identity was 0.0098. When using the ten loci together with DYS19, DYS385, DYS388, DYS389, DYS390, DYS391, DYS392, DYS393 which were already used in the Department of Forensic Medicine, College of Medicine, Seoul National University, the haplotype diversity was 0.9997, Probability of Identity was 0.0012.