Finding of variations in mitochondrial genome
Identification of Haplogroup
Mitochondrial DNA sequence was aligned with the rCRS by ClustalW software and assigned haplogroups defined by sequence differences from the rCRS. The haplogroup-diagnostic nucleotide sequence variants were assembled from reference information (Kong, et al., 2006).
Mapping disease information
Disease association mapping of mitochondrial DNA was performed for diseases, such as Leber Hereditary Optic Neuropathy, Alzeimer's Disease, and Parkinsons's Disease, for coding and non-coding regions. This information was obtained from Pubmed and MITOMAP. There are forty-two reported mitochondrial DNA base substitution diseases and 235 sites were related to base substitution diseases.
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