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  

Relationship between Spondyloppiphyseal Dysplasia Tarda Gene Escaping X Chromosome Inactivation and Spondyloppiphyseal Dysplasia Tarda Phenotype

作　　者：高超[1] 王怀立[2] 罗强 盛光耀[2] 周建华[2] 高铁铮[2] 

机构地区：[1]郑州市儿童医院,郑州450053 [2]郑州大学第一附属医院儿科,郑州450052

出　　处：《实用儿科临床杂志》2005年第10期1009-1010,共2页Journal of Applied Clinical Pediatrics

基　　金：河南省教育厅自然科学研究项目资助(2003320140)

摘　　要：目的探讨X-连锁迟发性脊椎骨骺发育不良(SEDL)基因逃避X染色体失活(XCI)及与临床表型的关系。方法从SEDL基因剪接受体突变(IVS2-2A→C)所致SEDL患者、女性致病基因携带者和健康对照者外周血中提取总RNA,进行RT-PCR.对扩增产物应用非变性聚丙烯酰胺凝胶电泳(PAGE)进行分析。结果SEDL患者和对照者分别存在2种RT-PCR产物,女性携带者扩增出上述4种转录物。家系凋查未发现该家族女性携带者有任何临床表现。结论首次从人体细胞证实SEDL基因逃避XCI。女性致病基因携带者不发病可能与该基因逃避XCI有关。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 XCL Family investigation showed carrier females in the SEDL pedigree presented no symptoms, Conclusions The SEDL gene escaping X chromosome inactivation is firstly identified from human body. This may explain that carrier females present no symptoms.

关 键 词：脊椎骺发育不全 基因 X染色体失活 

分 类 号：R726.8[医药卫生—儿科]