Analysis of MTCOI and MTCYB sequence variations in eight population groups living in Taiwan

Hsiao Lin Hwa, Chun Yen Lin, Tsang Ming Ko, Hsiang Yi Yin, Li Hui Tseng, Yi Ning Su, James Chun I Lee

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Objectives: Identification of coding region polymorphisms in addition to hypervariable regions of different populations is helpful to increase the value of mitochondrial DNA (mtDNA) polymorphic data in forensic genetics. Methods: Haplotype frequencies of MTCOI and MTCYB sequences were determined in 565 individuals of eight population groups living in Taiwan, including Taiwanese Han, indigenous Taiwanese of Taiwan Island, Tao of Orchid Island, mainland Chinese, Filipinos, Thais, Vietnamese, and Caucasian. Results: There were 125 and 138 polymorphic sites with 128 and 139 substitutions formed in MTCOI and MTCYB, respectively. Sequence positions with high heterogeneity were observed. Among the 565 subjects, 222 different hyplotypes were observed for combination of MTCOI and MTCYB sequences, and 158 haplotypes were noted only once. The sequence of MTCYB was more polymorphic than which of MTCOI. The forensic parameters were calculated and a relatively high random match probability in the Tao population was noted. Population-specific polymorphisms were found is the Tao and Caucasian groups. Conclusions: The MTCOI and MTCYB sequences are polymorphic and population specific sequence polymorphisms have been found in these regions. These polymorphisms may be valuable in individual identification of forensic casework, population haplogrouping, and ethno- geographical sub-classification.

Original languageEnglish (US)
Pages (from-to)219-228
Number of pages10
JournalRomanian Journal of Legal Medicine
Issue number3
StatePublished - Sep 2011
Externally publishedYes


  • Coding region polymorphism
  • Mitochondrial DNA
  • Random match probability

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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