DNA sequence encoding the E1beta subunit of human branched-chain alpha-ketoacid dehydrogenase and detection of mutation thereof

摘要

Provided are a novel nucleotide sequence coding for E₁β subunit of human branched-chain α-ketoacid dehydrogenase shown in SEQ ID NO: 1 and a method for the detection of the mutation of the gene encoding the human BCKDH-E₁β, which comprises amplifying a part of the gene, preferably the DNA sequence between position 401 and position 684 in SEQ ID NO: 1, by PCR with the use of all or part of the DNA of the present invention as a probe or a primer and carrying out electrophoresis, preferably non-denatured acrylamide gel electrophoresis, on the PCR products.;According to this method, a DNA diagnosis of MSUD can be carried out.