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Updated: Jul 16, 2026
Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
Published on: December 18, 2019
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family
1Tianjin Medical University Eye Center, Tianjin, China. remmusliu@gamil.com <remmusliu@gamil.com>
Purpose:
To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations.
Methods:
Seventeen members in an OI type I family were recruited, and clinical examinations were performed. All members were genotyped with microsatellite markers at loci associated with OI. A two-point LOD score was calculated using the Linkage package. A mutation was detected by direct sequencing.
Results:
All affected individuals in the family had fractured a bone more than once, and their sclerae were blue. Significant evidence of linkage was obtained at markers D17S1180 (LOD score [Z]=2.91, at recombination fraction [theta]=0.0) and D17S1319 (Z=2.20, at theta=0.0), respectively. Sequencing of the COL1A1 gene revealed a C>T transition in exon 36, which caused a substitution of Gln at codon 644 to a stop codon (Q644X). This mutation was not observed in unaffected or 100 normal unrelated individuals.
Conclusions:
This study is the first report that OI is associated with the mutation Q644X of COL1A1.
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