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

Abstract

To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria. 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. A new mutation of 146_154 del CCTTCCTGG was found in the patient and his father, and was absent in the controls. A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.