周列民 刘焯霖 梁秀龄 周珏倩 中山医科大学附属第一医院神经科 510080 中国神经精神疾病杂志 2000 0 26 5


    关键词：聚合酶链反应-单链构像多态性分析；Ⅰ型神经纤维瘤病；基因 期刊 zgsjjsjbzz 0 291-293 论著与学术交流 fur -->


    

【摘要】 目的 探讨国人Ⅰ型神经纤维瘤病(NF1)基因突变的热点。方法 用PCR-SSCP方法检查NF1基因28和31号外显子共约1060bp，约占NF1基因全部编码区的6.95%。结果 在27个家系中，发现4个家系(14.82%)、13例病人(23.64%)存在NF1基因突变。结论 提示本组病例28和31号外显子可能为突变热点。对突变性质的定论有赖于DNA序列分析。

Mutationaldetection on exon 28 and 31 of NF1 gene

Zhou Liemin Liu Zhuolin Liang Xiuling Zhou Jueqian

    (Department of Neurology, The First AffiliatedHospital, Sun Yet-sun University of Medical Scienses. 58, Zhongshan Road Ⅱ, Guangzhou. 510080. Tel:020-87332200-8283 )

【Abstract 】Objective To explore themutation hot spot of NF1 gene in Chinese.Methods ByPCR-SSCP analysis, we examined 627 bp of exon 28 and 31 of NF1 gene in Chinese patientswith NF1, which accounted for 6.95% of NF1 total coding region.Results We found that mutations of NF1 gene occurred in 13 patients(23.64%) from 4 families (14.82%) of 27 studied families.Conclusions The result suggests that eson 28 and 31 may be one of the mutationhot spot of NF1 gene in our cases. The detection of the mutagenesis nature must rely onthe DNA sequence analysis.

     【Key words 】 PCR-SSCP analysis Neurofibromatosistype 1 Gene

Ⅰ型神经纤维瘤病(neurofibromatosis type 1, NF1)为源于神经嵴细胞分化异常而导致的多系统损害的常染色体显性遗传病 ......