title: [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
abstract: OBJECTIVE
  To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.
  
  
  RESULTS
  DNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.
  
  
  CONCLUSIONS
  Among Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.
authors: Department of Endocrinology, Dongguan People's Hospital, Dongguan, Guangdong 523018, P. R. China. Email: wenpq@outlook.com.
authors: Zhanling
authors: Z
authors: Chen
authors: Pengqiang
authors: P
authors: Wen
authors: Guobing
authors: G
authors: Wang
authors: Yuhui
authors: Y
authors: Hu
authors: Xiaohong
authors: X
authors: Liu
authors: Li
authors: L
authors: Chen
authors: Shuli
authors: S
authors: Chen
authors: Lisheng
authors: L
authors: Wan
authors: Dong
authors: D
authors: Cui
authors: Yue
authors: Y
authors: Shang
authors: Chengrong
authors: C
authors: Li
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics*; D009154:Mutation; D056693:Propionic Acidemia / Q000235:genetics*
chemical_list: D043586:Methylmalonyl-CoA Decarboxylase