Relationship between Spondyloppiphyseal Dysplasia Tarda Gene Escaping X Chromosome Inactivation and Spondyloppiphyseal Dysplasia Tarda Phenotype
- VernacularTitle:X-连锁迟发性脊椎骨骺发育不良基因逃避X染色体失活与临床表型的关系
- Author:
chao, GAO
;
huai-li, WANG
;
qiang, LUO
;
guang-yao, SHENG
;
jian-hua, ZHOU
;
tie-zheng, GAO
- Publication Type:Journal Article
- Keywords:
spondyloepiphyseal dysplasia tarda;
gene;
X chromosome inactivation
- From:Journal of Applied Clinical Pediatrics
2003;0(10):-
- CountryChina
- Language:Chinese
-
Abstract:
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.
