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

摘要:

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.

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