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据文献报道,约半数颅内动脉瘤患者存在Ⅲ型胶原蛋白缺乏,提示颅内动脉瘤患者的Ⅲ型胶原蛋白基因(COL3Al)可能存在某种突变。为了验证这一假设,作者利用COL3Al基因的3’端非编码区基因组DNA探针,pPB-1,与54例颅内动脉瘤患者和26例对照者的基因组DNA进行了Southern-Blot分子杂交实验。结果,经AvaⅡ酶消化的动脉瘤组和对照组的基因组DNA,均出现了2个片段(6.2kb,4.5kb);经EcoRI酶消化后,也均出现了3个片段(2.1kb,1.7kb,0.8kb),其中,6.2kb、1.7kb和0.8kb恒定出现,另外发现,经AvaⅡ酶消化后出现4.5kb片段的患者和对照者,经EcoRⅠ消化后一定出现2.1kb片段;反之亦然。然而,各片段的大小及其出现的频率在两组之间无显著性差异X ̄2检验,P>0.05)。结论:上述RFLP片段在本组散发性颅内动脉瘤患者和其它神经外科疾病患者之间不存在遗传学上的连锁不平衡。
According to the literature, about half of patients with intracranial aneurysm type Ⅲ collagen deficiency, suggesting that patients with intracranial aneurysm type Ⅲ collagen gene (COL3Al) there may be a mutation. To test this hypothesis, the authors performed Southern-Blot molecular hybridization using genomic DNA from the 3 ’non-coding genomic DNA probe of COL3A1, pPB-1, with 54 patients with intracranial aneurysms and 26 controls . As a result, there were two fragments (6.2kb, 4.5kb) in the genomic DNA of Avastase-digested aneurysm group and the control group. Three fragments (2.1kb , 1.7kb, 0.8kb), of which 6.2kb, 1.7kb and 0.8kb constant, in addition, found that after digestion AvaII digestion of 4.5kb fragments of patients and controls, after digestion by EcoRI certain A 2.1 kb fragment appears; and vice versa. However, the size of each fragment and its frequency of occurrence did not differ significantly between the two groups using the X2 test (P> 0.05). Conclusion: The above RFLP fragments do not show a genetic linkage disequilibrium between patients with sporadic intracranial aneurysms and other neurosurgical diseases.