abstract |
The present invention relates to a kind of nucleic acid of the coding POLG mutant of separation, the application containing the kit of the nucleic acid and the nucleic acid in medical test, the nucleic acid has one or both of following mutation compared with SEQ ID NO:1: c.2617G > A mutation, c.3550G > A mutation.The nucleic acid is the pathogenic new gene of POLG related syndromes, is of great significance for the detection of POLG related syndromes risk. |