title: [Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
abstract: OBJECTIVE
  To identify thyroid peroxidase (TPO) gene mutations in 35 patients with congenital hypothyroidism.
  
  
  METHODS
  Genomic DNA was isolated from peripheral blood samples of 35 patients with congenital hypothyroidism. All of the 17 exons and flanking introns of TPO gene were amplified by PCR, then the PCR products were sequenced bi-directionally and were analyzed by restriction endonucleases.
  
  
  RESULTS
  One patient had compound heterozygous mutations c.961A>G/c.2422delT, one was c.2268insT/c.1477G>A, and three was homozygous mutation c.2268insT. The TPO gene mutation c.961A>G [p. Thr321Ala] was one novel mutation.
  
  
  CONCLUSIONS
  High frequency mutation in TPO gene was detected in patients with congenital hypothyroidism.
authors.affiliation: Department of Child Healthcare, Shenzhen Maternal and Child Health Hospital, Shenzhen 518048, China.
authors.forename: Hai-fei
authors.initials: HF
authors.lastname: Li
authors.forename: Yi-xin
authors.initials: YX
authors.lastname: Liu
authors.forename: Jian-sheng
authors.initials: JS
authors.lastname: Xie
authors.forename: Bin
authors.initials: B
authors.lastname: Chen
authors.forename: Su-li
authors.initials: SL
authors.lastname: Li
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007453:Iodide Peroxidase / Q000235:genetics*; D033862:Iron-Binding Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: D001324:Autoantigens; D033862:Iron-Binding Proteins; C056658:TPO protein, human; D007453:Iodide Peroxidase