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Multiplex amplified product‐length polymorphism analysis for rapid detection of human mitochondrial DNA variations
Author(s) -
Umetsu Kazuo,
Tanaka Masashi,
Yuasa Isao,
Saitou Naruya,
Takeyasu Takeshi,
Fuku Noriyuki,
Naito Emiko,
Ago Kazutoshi,
Nakayashiki Nori,
Miyoshi Aya,
Kashimura Seiichi,
Watanabe Gotaro,
Osawa Motoki
Publication year - 2001
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/1522-2683(200109)22:16<3533::aid-elps3533>3.0.co;2-s
Subject(s) - haplotype , mitochondrial dna , genetics , biology , haplogroup , multiplex , polymorphism (computer science) , coding region , phylogenetic tree , allele , gene
A number of mutations in coding and noncoding regions of mitochondrial DNA (mtDNA) have previously been studied. In the present study, we simultaneously typed six mutation sites in the coding region by use of amplified product‐length polymorphism (APLP) analysis. The mtDNA variations of 2471 individuals from 20 populations of Japanese, Korean, Chinese, and German were examined and classified into 18 haplotypes. Two of these haplotypes, B1 (estimated ancestral haplotype) and C1, were distributed among all populations tested. However, the haplotypes A1, A2, B2, B3, and C2 were mostly restricted to the Mongoloid populations, whereas haplotypes B5 and C5 appeared almost exclusively in the German population. Phylogenetic analysis by the neighbor‐joining method revealed that the Japanese populations were more closely related to each other than to the other East Asian populations surveyed. The multiplex APLP method is suitable for large‐scale screening studies of mtDNA variability because it is both rapid and economical.