[Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with typeⅠosteogenesis imperfecta].

To investigate the genetic cause for a large family affected with typeⅠosteogenesis imperfecta.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.A c.3208G>A mutation has been identified in the COL1A1 gene, which can alter the splicing pattern of mRNA.A novel splicing mutation c.3208G>A of the COL1A1 gene probably underlies the disease.