Polymorphism in the mitochondrial cytochrome B gene in Koreans

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Abstract
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.