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Typing the 1.1 kb Control Region of Human Mitochondrial DNA in Japanese Individuals

NCJ Number
217650
Journal
Journal of Forensic Sciences Volume: 52 Issue: 2 Dated: March 2007 Pages: 364-370
Author(s)
Tadashi Mabuchi Ph.D.; Rie Susukida Ph.D.; Akira Kido Ph.D.; Masakazu Oya M.D.
Date Published
March 2007
Length
7 pages
Annotation
In analyzing mtDNA (mitochondrial DNA) from 124 unrelated Japanese, this study used a reliable PCR-based method for identifying polymorphism in the 1.1 kb control region of human mtDNA.
Abstract
In HVI, HVII, and HVIII, 80, 37, and 14 polymorphic sites were identified, respectively, excluding those in the homopolymeric cytosine stretch (C-stretch) regions. The region between HVI and HVII also contained 15 polymorphic sites. On the other hand, C-stretch length heteroplasmy in HVI or HVII was observed in 66 of 124 Japanese individuals (53 percent), which is much higher than in Caucasian populations. The variants in the C-stretch regions were characterized by counting the number of heteroplasmic peaks split from the single peak in homoplasmic sequences. Including the C-stretch length heteroplasmy, the 124 Japanese mtDNA samples were classified into 116 distinct haplotypes. The random match probability and the genetic diversity were estimated to be 0.95 percent and 0.998581, respectively, indicating that the method presented in this paper has higher discrimination than the conventional method for mtDNA typing using HVI and HVII. The haplogroups and their frequencies observed in this study were similar to those observed in other studies of Japanese mtDNA polymorphism. In a case study presented in this paper, the proposed method was used in a successful analysis of tissues from highly putrefied remains of an infant. The infant's maternal relationship was determined through mtDNA haplotyping. The described method uses long-range PCR with engineered high-fidelity Taq polymerase and optimized primers to analyze mtDNA. 3 tables, 2 figures, and 40 references