Relationship between Spondyloppiphyseal Dysplasia Tarda Gene Escaping X Chromosome Inactivation and Spondyloppiphyseal Dysplasia Tarda Phenotype
GAO Qiao, WANG Huai - li,LUO Qiang, SHENG Guang - yao, ZHOU Jia,, - hua, GAO Tie - zheng ( The Children's Hospital of Zhengzhou, Zhengzhou 450053, China; Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.