Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations

Abstract

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.

Overview of genetic variation in the Y chromosome of modern Japanese males

“…In addition to the Y chromosome polymorphism, mitochondrial DNA (mtDNA) polymorphisms are widely used as a maternally inherited marker to elucidate human migration patterns. In Japan, the frequency of the mitochondrial haplogroup M7 showed a tendency to decrease, whereas the frequency of the haplogroup N9b showed a tendency to increase from south to north (Shinoda, 2007;Umetsu et al, 2001). These findings suggest that the mobility pattern of males may be different from that of females, because the distribution of Y haplotypes did not show a geographical gradient in contrast to mtDNA.…”

Common, Rare, and Individual Variations of Mitochondrial DNA Associated with Diseases or Longevity.

“…1. We analyzed mtDNA from 152 German individuals, but none of them carried Mtype A, 14.5% of them carried Mtype B, and 85.5% carried Mtype C. When we compared the frequencies of mitochondrial genotypes in Japan, Korea, China, and Germany, Mtype A was most frequent in Japan; Mtype B, in southern China; and Mtype C, in Germany [7]. These observations suggest that the longevity-associated mitochondrial genotype Mtype A found in Japanese centenarians is related to the longest life span known in the world.…”

“…We conclude that occupying the golden mean, at least in cytochrome b sequence, is an important genetic factor in longevity. 7 …”

Ancient DNA from nomads in 2500-year-old archeological sites of Pengyang, China

“…The mitochondrial haplogroups were identified using the amplified product-length polymorphism method. 5 The sex of each sample was determined by the amelogenin gene polymerase chain reaction test. Y chromosome single-nucleotide polymorphisms M175 and M242 were determined by sequencing to type the haplogroups O and Q.…”