Evaluation of the application of the MTATP6 and MTATP8 sequence variations on subclassification of mtDNA haplogroups and human identification
Date Issued
2012
Date
2012
Author(s)
Chen, Yen-Ching
Abstract
The characteristics of human mitochondrial DNA (mtDNA), such as maternal inheritance, high mutation rate, and high copy number allow mtDNA to be applied to forensic trace samples for human identification. The hypervariable region 1 (HV1) and the hypervariable region 2 (HV2), with high frequency of variation, are often used as a tool for forensic human identification. In order to distinguish between two unrelated persons with the same HV1 and HV2 sequence, we collected DNA samples of 167 unrelated Taiwanese Han. The polymorphisms of the MTATP6 and MTATP8 genes were analyzed. Evaluation of the usefulness of the mtDNA region polymorphisms including D-loop, MTCYB, MTCOI, MTATP6 and MTATP8 for forensic human identification and haplogroup subclassification was performed. In 167 DNA samples, there were 62 positions that varied form the rCRS with a total of 53 haplotypes found in the 842 nucleotide sequence of MTATP6 and MTATP8 genes. The haplotypes diversity, the nucleotide diversity and the random match probability (RMP) were 0.8982 +/- 0.0168, 002751 +/- 0.001675 and 10.72% respectively. In the the haplogroup analysis of D-loop, MTATP6, MTATP8, MTCOI, and MTCYB sequence, 24% of the sample changed their haplogroup subclassifiction with additional sequence polymorphism outside D-loop. The M haplogroup was the most common haplogroup(28.4%), among which the M7 was the most common subhaplogroup, accounting for 18.6%. The second common haplogroup was B haplogroup (22.5%), among which B4 was the most common (17.6%). In this thesis, polymorphisms of MTATP6 and MTATP8 in Taiwanese Han were analyzed. These polymorphisms may serve as an auxiliary of HV1 and HV2 sequence analysis for human identification. In forensic anthropology, in addition to the D-loop haplogroup, MTATP6 and MTATP8 may help to further subclassify the haplogroups for establishing the maternal lineage and migration of Taiwanese Han population.
Subjects
mitochondria DNA
MTATP6 gene
MTATP8 gene
polymorphism
haplotype
haplogroup
Type
thesis
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