Identification of a Missense Mutation (LDH-H: R171P) in a Lactate Dehydrogenase Deficiency Patient Using the Reverse Transcription-Polymerase Chain Reaction
A complete deficiency of lactate dehydrogenase subunit H was identified in a 41-year-old female with paralysis of her left lower limb. The propositus had extremely low LDH activity and five of her family members had from lower to normal level of LDH activity. DNA sequence analysis of the propositus identified a G→C transversion mutation at codon 171 from CGC (Arg) to CCC (Pro). PCR-primer introduced restriction analysis (PCR-PIRA) using a specific mismatched primer was employed to introduce a new Nrul restriction site into the PCR product. A family analysis by digestion with Nrul disclosed that her parents, younger sister and two daughters had the same mutation. This mutation, R171P, was newly discovered in Japan.