PRIMER FOR DIAGNOSING LIPID METABOLISM ABNORMALITY AND NEW MEDIUM CHAIN FATTY ACID ACYL-COA SYNTHETASE AND GENE THEREFOR

摘要

PROBLEM TO BE SOLVED: To provide a nucleic acid molecule which can be used for the genetic diagnose of lipid metabolism abnormality.

SOLUTION: This nucleic acid molecule is a nucleic acid molecule capable of detecting the mutation of a leucine residue at the 513-position of a medium chain fatty acid acyl-CoA synthetase (MACS2), and contains a nucleotide fragment capable of hybridizing to a polynucleotide encoding a protein containing a specific amino acid sequence or a polynucleotide complementary to the above polynucleotide.

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