Related Experiment Video
Updated: Jun 25, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria]
Hui Tang1, Hu Hao, Shao-hui Tang
1Depardment of Clinical Experiment Center, the First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510632 PR China.
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.
Related Concept Videos
01:20Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
01:36Mismatch Repair
01:35Pedigree Analysis
02:59Animal Mitochondrial Genetics
01:39Mutations
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...