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

2004/12/29 by Kazuo Umetsu, Masashi Tanaka, Isao Yuasa +7 · 5 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Metabolism and Genetic Disorders #Genetic Associations and Epidemiology #Haplogroup #Multiplex #Genetics #Mitochondrial DNA #Biology #Multiplex polymerase chain reaction #Coding region #Single-nucleotide polymorphism #Polymerase chain reaction #Polymorphism (computer science) #Human mitochondrial DNA haplogroup #Molecular biology #Gene #Haplotype #Allele #Genotype

paper · doi:10.1002/elps.200406129

openalex publication_date 2004/12/29 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22

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.

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Cited by

• Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture
• Analysis of Y chromosome haplogroups in Japanese population using short amplicons and its application in forensic analysis
• Complete human mtDNA genome sequences from Vietnam and the phylogeography of Mainland Southeast Asia
• Haplogroup D (mtDNA) [wikipedia]
• Haplogroup G (mtDNA) [wikipedia]