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Mitochondrial transfer RNA variants and primary congenital glaucoma.
- Source :
-
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis [Mitochondrial DNA A DNA Mapp Seq Anal] 2016 Jul; Vol. 27 (4), pp. 2405-7. Date of Electronic Publication: 2015 Apr 02. - Publication Year :
- 2016
-
Abstract
- Variants in mitochondrial DNA (mtDNA) are the most important causes for vision loss, the mt-tRNA variants being the largest group among them. In this study, we report the molecular characterization of 15 mt-tRNA variants with primary congenital glaucoma (PCG). Based on phylogenetic approach, we found that only half of them were definitely pathogenic with PCG, other mutations were single nucleotide polymorphisms (SNP) in human population. Thus, our study provided novel insight into the pathogenesis of PCG.
Details
- Language :
- English
- ISSN :
- 2470-1408
- Volume :
- 27
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis
- Publication Type :
- Academic Journal
- Accession number :
- 25835039
- Full Text :
- https://doi.org/10.3109/19401736.2015.1028050