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


CONCLUSIONS
A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.
Tang
Hui
H
Depardment of Clinical Experiment Center, the First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510632 PR China.
Hao
Hu
H
Tang
Shao-hui
SH
Chen
Xuan
X
Liu
Fang
F
Cha
Qing-bing
QB
Li
Yue-qin
YQ
Li
Hong-jian
HJ
Sun
Liang
L
Yu
Ming
M
Xiao
Xin
X
Zhou
Tian-hong
TH
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D016022:Case-Control Studies; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005220:Fathers; D005260:Female; D006801:Humans; D008297:Male; D008764:Methylmalonic Acid / Q000378:metabolism*; D008969:Molecular Sequence Data; D009154:Mutation; D010088:Oxidoreductases; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D017433:Protein Structure, Secondary
D002352:Carrier Proteins; D008764:Methylmalonic Acid; C508359:MMACHC protein, human; D010088:Oxidoreductases