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目的探讨湖南人群中 COL3A1基因多态性与脑梗死疾病有无相关性。方法收集脑梗死患者血样标本110例(包括散发和脑梗死家系的患者)及健康对照血样标本70例。采用聚合酶链反应-简单序列长度多态性(PCR-SSLP)及产物测序分析检测 COL3A1基因的多态性。结果湖南地区汉族脑梗死患者 COL3A1基因多态位点基因分布与对照组相比,等位基因片段分布的频率不同,COL3A1基因等位基因型 COL3A1-3基因频率分布(0.93)显著高于健康对照组(0.43),差异有统计学意义(χ~2=20.487,P<0.01)。散发组脑梗死患者和家系组患者各基因分布差异无统计学意义。结论 COL3A1多态分布无明显年龄性别差异,COL3A1基因25号内含子 VNTR 多态可能与脑梗死的发病有关。
Objective To investigate the association between COL3A1 gene polymorphism and cerebral infarction in Hunan population. Methods Blood samples from 110 patients with cerebral infarction (including those with sporadic and cerebral infarction families) and 70 healthy blood samples were collected. The polymorphism of COL3A1 gene was detected by polymerase chain reaction-simple sequence length polymorphism (PCR-SSLP) and product sequencing analysis. Results The distribution of COL3A1 gene polymorphisms in patients with cerebral infarction in Han nationality in Hunan Province was significantly different from that in the control group. The distribution frequency of COL3A1-3 allele in COL3A1 allele was significantly higher than that in healthy controls Group (0.43), the difference was statistically significant (χ ~ 2 = 20.487, P <0.01). Distribution of patients with cerebral infarction and family members of patients with no significant difference in gene distribution. Conclusion There is no significant gender difference in the distribution of COL3A1 polymorphism. The VNTR polymorphism of COL3A1 gene intron 25 may be related to the pathogenesis of cerebral infarction.