| 摘要 |
PROBLEM TO BE SOLVED: To detect an abnormality in human mitochondrial DNA which is used for diagnosis or the like for familial nephropathy due to an abnormality in mitochondrial DNA relevant to familial nephropathy by detecting a specific abnormal amino acid in the specific position of the base sequence of the human mitochondrial DNA of a test subject. SOLUTION: The abnormality in human mitochondrial DNA relevant to familial nephropathy is detected by detecting at least one of variations selected from variations of adenine in 15923 position to guanine, adenine in 2246 position to guanine, thymidine in 14180 position to cytosine and adenine in 14927 position to guanine in the base sequence of the human mitochondrial DNA of a test subject by the use of various detecting methods, e.g. Southern hybridization method, dot hybridization method, dideoxy base sequence-deciding method, PCR-restriction fragment length polymorphism combined with DNA amplification technique. |
