title: [Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta].
abstract: OBJECTIVE
  To investigate the genetic cause for a large family affected with typeⅠosteogenesis imperfecta.
  
  
  METHODS
  Genomic DNA was extracted from peripheral venous blood samples. The entire coding region and intron-exon boundaries of the COL1A1 gene were subjected to PCR amplification and direct sequencing. Total RNA was also extracted from immortalized B cell lines from the patients, with the first strand of cDNA synthesized with an oligo(dT)18 primer. The PCR products were directly sequenced using the TA cloned plasmid.
  
  
  RESULTS
  A c.3208G>A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA.
  
  
  CONCLUSIONS
  A novel splicing mutation c.3208G>A of the COL1A1 gene probably underlies the disease.
authors.affiliation: Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, P.R. China. Email: 274190576@ qq.com.
authors.forename: Yinsen
authors.initials: Y
authors.lastname: Song
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Jin
authors.forename: Jinghui
authors.initials: J
authors.lastname: Kong
authors.forename: Ding
authors.initials: D
authors.lastname: Zhao
authors.forename: Zhenxin
authors.initials: Z
authors.lastname: Guo
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012326:RNA Splicing; D055815:Young Adult
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain