Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 62-65, 2009.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-287453
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>A new mutation of 146_154 del CCTTCCTGG was found in the patient and his father, and was absent in the controls.</p><p><b>CONCLUSION</b>A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Carrier Proteins
/
Case-Control Studies
/
Chemistry
/
Polymerase Chain Reaction
/
Exons
/
Amino Acid Sequence
Type of study:
Observational study
Limits:
Animals
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Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Document type:
Article