论文部分内容阅读
目的探讨paraplegin基因在中国人遗传性痉挛性截瘫(HSP或SPG)中的突变特点,为该病的基因诊断奠定基础。方法应用聚合酶链反应单链构象多态性(PCRSSCP)结合DNA序列分析方法,对来自全国8个常染色体隐性遗传HSP家系的先证者和14例散发性HSP患者进行paraplegin基因突变分析。结果所有外显子均可扩出,发现15号外显子上2例先证者出现异常SSCP条带,经DNA序列分析发现2063及2066位点上存在碱基G被A替换,但家系内不存在共分离的现象,且正常对照者也存在G被A替换,考虑为多态,其中G2066A为首次发现。结论Paraplegin基因突变可能在中国人HSP患者中少见。2063G→A及2066G→A是paraplegin基因的两个多态性改变,其中2066G→A为首次发现。
Objective To investigate the mutation of paraplegin gene in Chinese hereditary spastic paraplegia (HSP or SPG) and lay a foundation for the gene diagnosis of this disease. Methods The polymerase chain reaction single strand conformation polymorphism (PCRSSCP) combined with DNA sequence analysis was used to analyze the mutation of paraplegin gene in probands of 14 autosomal recessive HSP families and 14 cases of sporadic HSP in China. Results All exons could be expanded. Two SSCP bands were found in exon 15 of exon. According to DNA sequence analysis, base G at 2063 and 2066 was replaced by A, but not in the pedigree There was a phenomenon of co-segregation, and G was also replaced by A in the normal control. The polymorphism was considered, of which G2066A was found for the first time. Conclusion Paraplegin gene mutations may be rare in Chinese HSP patients. 2063G → A and 2066G → A are two polymorphisms of paraplegin gene, 2066G → A is the first discovery.