title: [Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta].
abstract: OBJECTIVE
  To detect mutation of COL1A1 gene in a Chinese family affected with type I osteogenesis imperfecta (OI) and to provide prenatal diagnosis for a fetus at 17th gestational week.
  
  
  METHODS
  Polymerase chain reaction, DNA sequencing and restriction endonuclease analysis were used to verify the detected mutation among other members of the family and 100 healthy controls.
  
  
  RESULTS
  No mutation has been detected in the COL1A2 gene in all of the subjects. A heterozygous mutation c.104-1G>C was identified in the COL1A1 gene among all patients from this family. The same mutation was not found in other members from the family and the 100 healthy controls. The mutation was not found in the fetus, and was verified to be a new mutation according to the type I collagen mutation database.
  
  
  CONCLUSIONS
  The c.104-1G>C mutation of the COL1A1 gene probably underlies the type I osteogenesis imperfecta in this family. Under the premise of a clear genetic diagnosis, prenatal diagnosis may be provided to reduce the risk for the disease.
authors.affiliation: Henan Medical Genetics Institute, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, P. R. China. ychslshx@126.com.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.forename: Qiaofang
authors.initials: Q
authors.lastname: Hou
authors.forename: Zhiyou
authors.initials: Z
authors.lastname: Liu
authors.forename: Litao
authors.initials: L
authors.lastname: Qin
authors.forename: Shixiu
authors.initials: S
authors.lastname: Liao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain