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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):62-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.014.

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

[Article in Chinese]

Author information

1
Depardment of Clinical Experiment Center, the First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510632 PR China.

Abstract

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.

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