title: Variant at position 10,055 in mitochondrial tRNA(Gly) gene has a negative association with aplastic anemia.
abstract: Recently, a growing number of reports had shown the association between mitochondrial DNA (mtDNA) sequence variants and aplastic anemia (AA). Owing to its high mutation rate, mtDNA variant had become biomarker for clinical and molecular diagnosis for AA. However, the relationship between mtDNA variant and AA was largely unknown. In this study, we reanalyzed the possible association between a "pathogenic" mutation A10055G in mt-tRNA(Gly) gene and AA, through the application of bioinformatics tool, we found that this mutation did not alter the secondary structure of tRNA(Gly), the pathogenicity scoring system indicated that the score of this mutation was only two points and belonged to a "neutral polymorphism", suggested that the role of A10055G mutation in clinical expression in AA needed to be further experimentally addressed.
authors: a First Affiliated Hospital of Zhengzhou University , Zhengzhou , Henan , PR China.
authors: Zhongxing
authors: Z
authors: Jiang
authors: a First Affiliated Hospital of Zhengzhou University , Zhengzhou , Henan , PR China.
authors: Xinai
authors: X
authors: Wu
authors: a First Affiliated Hospital of Zhengzhou University , Zhengzhou , Henan , PR China.
authors: Yanan
authors: Y
authors: Zhu
mesh_terms: D000483:Alleles; D000741:Anemia, Aplastic / Q000235:genetics*; D000818:Animals; D019295:Computational Biology; D030561:Databases, Nucleic Acid; D019143:Evolution, Molecular; D050259:Genes, Mitochondrial; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D009690:Nucleic Acid Conformation; D010802:Phylogeny; D012353:RNA, Transfer, Gly / Q000737:chemistry / Q000235:genetics*
chemical_list: D012353:RNA, Transfer, Gly
keywords: A10055G mutations; aplastic anemia; mitochondrial tRNA; pathogenic