Polymorphism in the mitochondrial cytochrome B gene in Koreans. An additional marker for individual identification.

Sequencing the mitochondrial control region is very useful for individual identification when conventional DNA typing using autosomal STRs is unavailable. However, low discriminatory power is a problem and another polymorphic locus within the mitochondrial genome is necessary. The cytochrome B (MTCYB) gene, which has undergone several changes during evolution, may be a good candidate for this purpose. Here the sequencing data of the MTCYB gene of 98 unrelated Koreans is presented. A total of 30 polymorphic sites were found which were distributed evenly along the gene. All were nucleotide substitutions and no insertions/deletions were noted. A total of 22 different MTCYB lineages were revealed. Out of 22 different control region lineages with 79 samples which shared the same D-loop sequence with some others within a lineage, 10 lineages with 37 samples could be sub-grouped according to different MTCYB sequences. Some issues concerning the MTCYB gene polymorphism are discussed.