中文摘要：

目的探讨COL3A1基因多态性与中国人汉族颅内动脉瘤散发病例Ⅲ型胶原蛋白稳定性的相关关系。方法随机选择56例颅内动脉瘤散发病例和57例对照组，对照组为排除颅内动脉瘤并且不具备颅内动脉瘤发病的可能风险因素，不存在颅内动脉瘤家族史、蛛网膜下腔出血史及脑卒中个人史及家族史者，抽取研究对象的外周血，提取基因组DNA，扩增感兴趣的基因片段并测序，比较病例组和对照组之间COL3A1基因多态性出现的频率差异；然后再应用生物信息学的相关方法探讨多态性位点突变对Ⅲ型胶原蛋白稳定性的影响作用。结果颅内动脉瘤和对照组rs1800255位点基因型及等位基因的差异均具有统计学意义；该位点突变导致的氨基酸替代可以导致COL3A1编码的多肽稳定性下降。结论COL3A1基因的多态性位点rs1800255与中国人汉族颅内动脉瘤散发病例之间存在相关性，COL3A1基因是中国人汉族颅内动脉瘤散发病例的易感基因之一。

英文摘要：

Objective To investigate the probable relationship between the genetic polymorphisms of Ⅲ collagen α1 （COL3A1） gene and sporadic intracranial aneurysm patients in China of Han nationality. Methods Peripheral blood samples were collected from 56 randomly selected sporadic intracranial aneurysm patients and 57 control cases without intracranial aneurysm, related risk factors, subarachnoid hemorrhage, and stroke history. Genomic DNA was extracted. PCR and sequencing were performed to evaluate the frequency discrepancy of the single nucleotide polymorphisms （SNPs）. After statistical analysis the polymorphism site correlated with intracranial aneurysm was further investigated with bioinformatics methods to explore the influence of the mutations of polymorphic sites on the stability of type Ⅲ collagen. Results Both the genotype and allele frequencies of rs1800255 between the intracranial anemysm and control group were statistically significant. There were no significant differences in the genotype and allele frequencies of thee SNPs rs2271683, rs151446, and nt2346. Data showed that the amino acid change induced by the polymorphism site could sabotage the stability of type Ⅲ collagen.Conclusion There is significant correlation between rs1800255 of COL3A1 gene and Chinese sporadic intracranial aneurysm patients of Han nationality, which confirms the COL3A1 gene is one of the susceptible genes of Chinese sporadic intracranial aneurysm patients of Han nationality.