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Table 1 Synthetic LHON control plasmids and mixes

From: Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients

Plasmid

Nucleotide Positions

Normal Mix

3460A mix

11778A mix

14484C mix

3460G (N)

3275 – 4272

X

 

X

X

3460A (M)

3275 – 4272

 

X

  

11778G (N)

11580 – 12118

X

X

 

X

11778A (M)

11580 – 12118

  

X

 

14484 T (N)

14449 – 15022

X

X

X

 

14484C (M)

14449 – 15022

   

X

  1. The table presents nucleotide positions, based on the reference sequence NC_012920.1, included in the cloned mitochondrial plasmids. 3460G indicates the normal G nucleotide at position 3460 and 3460A indicates the mutated A at position 3460; similarly, for 11778 and 14484 plasmids. The synthetic diagnostic control mixes are generated by mixing the indicated plasmids at 1.5 ng/μl. For a diagnostic test, 1 μl of a diagnostic control mix is used