VARIATION OF ELECTRON TRANSFER FLAVIN PROTEIN DEHYDROGENASE GENE AND METHOD FOR DIAGNOSIS OF GLUTARIC ACIDURIA TYPE II USING THE VARIATION

摘要

PROBLEM TO BE SOLVED: To provide a means for the early and sure diagnosis of glutaric aciduria type II (GAII) which is a rare disease but difficult to perform early diagnosis.

SOLUTION: The diagnosis of GAII is carried out by using a polynucleotide formed by the missense mutation of the 1096th cytosine to thymine and the 1208th cytosine to thymine in a cDNA of a gene encoding an electron transfer flavin protein dehydrogenase (ETF-QO) causing GAII, a part of the polynucleotide, a polypeptide encoded by the gene or a part of the polypeptide.

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