title: [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
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.
  
  
  CONCLUSIONS
  A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.
authors.affiliation: Depardment of Clinical Experiment Center, the First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510632 PR China.
authors.forename: Hui
authors.initials: H
authors.lastname: Tang
authors.forename: Hu
authors.initials: H
authors.lastname: Hao
authors.forename: Shao-hui
authors.initials: SH
authors.lastname: Tang
authors.forename: Xuan
authors.initials: X
authors.lastname: Chen
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Qing-bing
authors.initials: QB
authors.lastname: Cha
authors.forename: Yue-qin
authors.initials: YQ
authors.lastname: Li
authors.forename: Hong-jian
authors.initials: HJ
authors.lastname: Li
authors.forename: Liang
authors.initials: L
authors.lastname: Sun
authors.forename: Ming
authors.initials: M
authors.lastname: Yu
authors.forename: Xin
authors.initials: X
authors.lastname: Xiao
authors.forename: Tian-hong
authors.initials: TH
authors.lastname: Zhou
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D008764:Methylmalonic Acid; C508359:MMACHC protein, human; D010088:Oxidoreductases