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目的探讨脑血管狭窄患者Nf1基因的突变热点及突变方式。方法从全血中提取DNA,采用变性高效液相色谱分析(DHPLC)对5例脑血管狭窄病例进行Nf1全基因突变筛查;对DHPLC检测有差异洗脱峰型的区域进行测序分析。结果 5例无危险因素的脑血管狭窄患者Nf1全基因筛查发现:(1)1例出现5号外显子无义突变位点,c.541C-T;(2)5例均有14号和15号外显子之间内含子的基因突变;(3)4例有7号外显子c.702G-A的同义突变位点;(4)1例出现32号(c.4177G-A,Val-Ile)和46号外显子(c.6918T-G,Asn-Lys)的错义突变。结论在目前无其他基础疾病的脑血管狭窄患者体内的Nf1基因并非以稳定野生型存在,而是具有不同类型的突变,这些突变集中在第5、7、14、32和46等外显子上。
Objective To investigate the mutation hot spots and mutation patterns of Nf1 gene in patients with cerebrovascular stenosis. Methods DNA was extracted from whole blood. Five cases of cerebrovascular stenosis were screened by N-terminal deoxynucleotidyl transferase-linked immunosorbent assay (DHPLC). The region of differential elution peak detected by DHPLC was sequenced. Results The Nf1 whole-genome screening of 5 patients with cerebrovascular stenosis without risk factors showed that: (1) one case had no-exon 5 mutation site, c.541C-T; (2) 5 cases had 14 and (3) 4 cases of synonymous mutation sites of exon 7 c.702G-A; (4) 1 case of 32 (c.4177G-A, Val-Ile) and exon 46 (c.6918T-G, Asn-Lys). Conclusions Nf1 gene in cerebrovascular stenosis patients without other underlying diseases is not present in stable wild type but with different types of mutations. The mutations are concentrated on exons 5,7,14,32 and 46 .