title: [Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I].
abstract: OBJECTIVE
  To perform molecular diagnosis for a Chinese pedigree with osteogenesis imperfecta type I.
  
  
  METHODS
  Thirty pairs of primers were designed to amplify all the 52 exons, exon boundaries and promoter region of the COL1A1 gene from genomic DNA of peripheral blood cells of the family members. The PCR products were purified and directly sequenced. To check the mutation in normal controls, the genomic DNA from peripheral blood cells of the index patient, his mother and 60 normal controls were analyzed by amplification refractory mutation system.
  
  
  RESULTS
  A missense mutation of GAT>CAT was identified at codon 1441 of the COL1A1 gene from the family, which resulted in the replacement of aspartic acid by histidine (D1441H). This mutation was not found in a group of 60 normal controls.
  
  
  CONCLUSIONS
  The method for molecular diagnosis of osteogenesis imperfecta was established and a novel COL1A1 gene mutation, D1441H, was identified in the Chinese pedigree with osteogenesis imperfecta type I.
authors.affiliation: Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Nanjing Military Region, Fuzhou, Fujian, 350025 PR China.
authors.forename: Long-feng
authors.initials: LF
authors.lastname: Ke
authors.forename: Lin-wen
authors.initials: LW
authors.lastname: Zheng
authors.forename: Hai-hua
authors.initials: HH
authors.lastname: Xie
authors.forename: Ai-zhen
authors.initials: AZ
authors.lastname: Yan
authors.forename: Zhong-yong
authors.initials: ZY
authors.lastname: Zhu
authors.forename: Feng-hua
authors.initials: FH
authors.lastname: Lan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain