Ⅰ型神经纤维瘤病基因GRD区突变研究

A study on mutations in GAP Related Domain of neurofibromatosis type 1 gene.

目的 对39例Ⅰ型神经纤维瘤病（NF1）患者基因的部分GTP酶活化蛋白相关功能区（GRD区）的cDNA突变进行研究。方法 应用反转录聚合酶链反应（RT-PCR）分段扩增GRD区域上的cDNA序列,用单链构象多态性（SSCP）及直接测序法对RT-PCR产物进行突变分析。结果 仅发现1例点突变G3918T颠换,导致1306精氨酸（R）变成亮氨酸（L）。结论NF1基因的GRD区可能不是NF1基因突变的热点区域。

Objective Choose a cDNA sequence in NF1 GRD to perform mutation analysis on 39 NF1 patients. Methods First, amplify cDNA fragments in GRD by RT-PCR. Then, perform mutation analysis on the products of RT-PCR by SSCP and Direct Sequencing. Results We find only one point mutation G3918T which causes a R1306L substitution. Conclusions The GRD region of NF1 gene may not be its mutational hotspots.