[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].

OBJECTIVE: To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria. METHODS: The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing. The MMACHC gene of 50 healthy people was also sequenced as control. RESULTS: A new mutation of 146_154 del CCTTCCTGG was found in the patient and his father, and was absent in the controls. CONCLUSION: A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.