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Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations

  • Kazuo Umetsu*
  • , Masashi Tanaka
  • , Isao Yuasa
  • , Noboru Adachi
  • , Aya Miyoshi
  • , Seiichi Kashimura
  • , Kyung Sook Park
  • , Yau Huei Wei
  • , Gotaro Watanabe
  • , Motoki Osawa
  • *Corresponding author for this work
  • Yamagata University
  • Gifu Intl. Inst. of Biotechnology
  • Tottori University
  • Tohoku University
  • Fukuoka University
  • Sungshin Women's University
  • National Yang Ming Chiao Tung University

Research output: Contribution to journalJournal Article peer-review

76 Scopus citations

Abstract

We present a reliable, rapid, and economical multiplex amplified product-length polymorphism (APLP) method for analyzing the haplogroup-diagnostic mitochondrial single-nucleotide polymorphisms (mtSNPs) in East Asian populations. By examining only 36 haplogroup-specific mtSNPs in the coding region by using four 9-multiplex polymerase chain reaction (PCR) and subsequent electrophoresis, we could safely assign 1815 individuals from 8 populations of Japanese, Korean, Chinese, and Germans to 45 relevant haplogroups. This multiplex APLP analysis of coding-region MtSNPs for haplogrouping is especially useful not only for molecular phylogenetic studies but also for large-scale association studies due to its rapid and economical nature. This is the first panel of mtSNPs in the coding region to be used for haplogrouping of East Asian populations.

Original languageEnglish
Pages (from-to)91-98
Number of pages8
JournalElectrophoresis
Volume26
Issue number1
DOIs
StatePublished - 01 2005
Externally publishedYes

Keywords

  • Amplified product-length polymorphism
  • Haplogroup
  • Mitochondrial DNA
  • Mitochondrial single-nucleotide polymorphism

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