DIAGNOSIS OF CITRULLINEMIA TYPE II ONSET IN ADULT

摘要

PROBLEM TO BE SOLVED: To simply and definitely diagnose citrullinemia type II which develops in adult by examining the presence of deletion in a specific region of cDNA which is synthesized from genomic DNA in a specimen or the like. SOLUTION: Citrullinemia type II onset in adult is diagnosed by examining (i) the presence or absence of variation deleting in a region of 851 nt to 854 nt of SLC25A13 cDNA encoding the region represented by the formula in cDNA or mRNA, or the presence or absence or variation corresponding to the variation in genomic DNA, (ii) the presence or absence of substitution from G to A in 5'-end of 11th intron of SLC25A13 gene in the position which corresponds to 1177 nt to 1178 nt of an encoding region of SLC25A13 cDNA represented by the formula, etc., in a genomic DNA or mRNA in a specimen or cDNA which is synthesized from the mRNA. It is preferable to diagnose by an immunoassay.