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目的 研究X 连锁迟发性脊椎骨骺发育不良 (X linkedspondyloepiphysealdysplasiatarda ,SEDL)的发病机理。方法 应用聚合酶链反应 单链构象多态及变性聚丙烯酰胺测序凝胶电泳技术 ,并结合DNA序列分析方法 ,对 5例SEDL患者及 3 0名正常对照SEDL基因的全部编码外显子及其邻近序列进行突变分析。结果 在 1例SEDL患者中发现了致病突变 ,并经DNA序列分析证实 ,SEDL基因第 5内含子剪接受体处IVS5 2— 1delAG紧接第 6外显子 3 2 2— 3 3 2delTTTTCAATGAA共 13个碱基缺失。结论该突变系国内外尚未见报道的新突变 ,这一突变可引起SEDL。
Objective To study the pathogenesis of X-linked delayed spine epiphyseal dysplasia (X linkedspondyloepiphysealdysplasiatarda, SEDL). Methods Single-strand conformation polymorphism (PCR) and denaturing polyacrylamide gel electrophoresis (PCR-PAGE) and polymerase chain reaction-sequence-specific polyacrylamide gel electrophoresis (PCR-PAGE) were used to detect the full coding exons of SEDL gene in 5 SEDL patients and 30 healthy controls Mutation analysis of adjacent sequences. Results A disease-causing mutation was found in one patient with SEDL. DNA sequence analysis confirmed that the IVS5 2- 1delAG at the SUTL gene splicing acceptor was located immediately after exon 6 3 2 2 3 3 2delTTTTCAATGAA 13 bases are missing. Conclusion This mutation has not been reported at home and abroad, new mutations, this mutation can cause SEDL.