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目的 :分析 1例颅内海绵状血管瘤 (ICCA)患者CCM1基因 17号外显子新的同义突变位点。方法 :收集 2 1例ICCA患者及 3 0例正常健康人外周静脉血 ,抽提DNA、PCR法扩增 17号外显子后直接测序 ,并与Genebank比较。结果 :1例ICCA患者的CCM1基因17号外显子第 1875位碱基C被T取代 (1875C→T) ,为新发现的同义突变 ,位于编码的KRIT1蛋白FERM结构域内。其余检测均无异常。结论 :在 17号外显子中未发现致病的CCM1基因突变位点 ,但仍然存在 1875C→T的基因变异 ,可能与 1CCA发病有关。
Objective: To analyze a new synonymous mutation site of exon 17 of CCM1 gene in one case of intracranial cavernous hemangioma (ICCA). Methods: Peripheral venous blood was collected from 21 patients with ICCA and 30 healthy controls. DNA was extracted and sequenced directly by PCR amplification of exon 17 and compared with Genebank. Results: In one ICCA patient, the base C at position 1875 of exon 17 of CCM1 was replaced by T (1875C → T), which was a newly discovered synonymous mutation located in the FERM domain of KRIT1 protein. The remaining tests were normal. Conclusion: No pathogenic CCM1 gene mutation was found in exon 17, but the gene mutation of 1875C → T still exists, which may be related to the pathogenesis of.