Detection of Gene Mutation and Relationship between Phenotype and Genotype in Four Chinese Families with Osteogenesis Imperfecta / 实用儿科临床杂志

ABSTRACT

T mutation was detected in the 4th propositus at the 9th intron,but any COL1A1 or COL1A2 gene mutation was detected in the third propositus and the other members in the former families.Conclusions The genetic mutation of COL1A1 may result in OI in China,but other mutations may also exist.Moreover,the phenotype was influenced not only by OI genotype,but also by the genetic background,environment and other factors.