中国人Ⅰ型神经纤维瘤病基因突变分析  

Mutation analysis on exon 20,28,29 and 39 of NF1 gene in Chinese

作　　者：孙漓[1] 周列民[2] 周钰倩[2] 

机构地区：[1]深圳市第五人民医院(罗湖医院)神经科,518000 [2]中山大学附属第一医院神经科,广州510080

出　　处：《中华神经医学杂志》2007年第8期802-805,共4页Chinese Journal of Neuromedicine

基　　金：卫生部科研基金(961126);国家教委博士点基金(97117)

摘　　要：目的对中国人Ⅰ型神经纤维瘤病(NF1)基因20、28、29、39号外显子进行基因突变分析及评价聚合酶链反应-单链构象多态/异源双链(PCR-SSCP/HA)技术在NF1基因诊断中的价值。方法应用PCR-SSCP/HA技术,结合DNA测序,筛查56例患者NF1基因20、28、29、39号外显子的突变或多态性。结果在20号外显子发现一个家系父子3人的SSCP/HA出现泳动异常,DNA测序证实为20号外显子上T→G的杂合突变即Leul141Arg错义突变:发现1例患者28号外显子的SSCP/HA检测有泳动异常,测序证实为28号外显子5’端上游的第28位核苷酸G→T杂合;29、39号外显子未检测到泳动异常的条带。结论联合应用SSCP/HA的方法可提高基因突变检测敏感度及检出率,NF1基因20、28、29、39号外显子不是突变热点或突变率相对较高的区域。Objective To perform mutation analysis on exon 20, 28, 29 and 39 of neurofibromatosis type 1 （NF1） gene in Chinese and assess the value ofpolymerase chain reaction-single strand conformation polymorphism/heteroduplex analysis （PCR-SSCP/HA） techniques in gene diagnosis ofNF1. Methods DNA sequencing in addition to PCR-SSCP/HA techniques were applied to screen the mutation or polymorphism in exon 20, 28, 29 and 39 of NF1 gene in 56 patients. Results Abnormal mobility shift of SSCP/HA detected in exon 20 of familial three men （including the father and his two sons） showed by DNA sequencing that heterozygous T→G mutation in exon 20 was Leul 141Arg mutation; abnormal mobility shift of SSCP/HA detected in exon 28 of one patient showed by DNA sequencing heterozygous G→T mutation located at nucleotide-28 （nt-28） of the 5＇ upstream region in exon 28; no band with abnormal mobility shift was found by SSCP/HA for exon 29 and 39. Conclusion The combined application of SSCP/HA techniques may enhance the sensitivity and detection rate ofgene mutations. Exon 20, 28, 29 and 39 ofNF1 gene are not hotspots of mutations or regions with relatively high mutation rate.

关 键 词：Ⅰ型神经纤维瘤病 基因突变 单链构象多态 异源双链 

分 类 号：R739.4[医药卫生—肿瘤]