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1: J Hum Genet. 1999;44(1):69-72.Click here to read Links

First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient.

Hidaka K, Ueda N, Hirata I, Watanabe Y, Minatogawa Y, Iuchi I.

Department of Biochemistry, Kawasaki Medical School, Kurashiki, Japan. kazuohi@med.kawasaki-m.ac.jp

Complete deficiency of lactate dehydrogenase (LDH) subunit H was identified in a 41-year-old woman with paralysis of her left lower limb. The propositus had extremely low LDH activity and five of her family members had levels of LDH activity that ranged from lower than normal to normal level. A transversion mutation at codon 171 (CGC-->CCC), resulting in an Arg-->Pro substitution was identified in her DNA sequence. A new NruI restriction site was introduced into the polymerase chain reaction (PCR) product by PCR-primer introduced restriction analysis (PCR-PIRA) using a specific mismatched primer. Digestion with NruI revealed that the propositus and her mother were, respectively, homozygous and heterozygous for this mutation.

PMID: 9929983 [PubMed - indexed for MEDLINE]