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背景:高半胱氨酸与脑梗死发病相关,胱硫醚β-合酶是同型半胱氨酸代谢关键酶,其基因突变是不是脑梗死的潜在的遗传候选因素尚不清楚。目的:从遗传基因变异的角度观察胱硫醚β-合酶基因T833C位点、G919位点碱基突变与青年缺血性脑卒中发病之间的关系。设计:病例-对照分析。单位:吉林大学中日联谊医院神经内科。对象:病例组:100例,为2003-04/2004-12吉林大学中日联谊医院住院患者。均是发病2d内住院、年龄≤45岁的青年脑梗死患者。对照组:100例,为同期来院体检的正常青年人。方法:以高效液相色谱法测定受试者空腹及负荷后血浆同型半胱氨酸水平,采用聚合酶链-限制性内切酶片段长度多态性分析和扩增阻滞突变体系法,对所有受试者的胱硫醚β-合酶基因T833C位点,G919A位点进行检测。结果:200例均进入结果分析。①胱硫醚β-合酶基因T833C位点,G919A位点基因检测病例组和对照组基因型分布、纯合子频率和等位基因频率差异均没有统计学意义(P>0.05)。②血浆同型半胱氨酸浓度:G919A,T833C各基因型间有显著差异(P<0.001);二个位点突变结果LSD-t检验显示:纯合子与杂合子,纯合子与野生型,C杂合子与野生型间差异均有显著性意义(P<0.05)。结论:①胱硫醚β-合酶基因T833C,G919A位点突变均可导致血浆同型半胱氨酸浓度明显增高。②胱硫醚β-合酶基因G919A和T833C基因突变与青年脑血管病发病无直接相关性。
BACKGROUND: Homocysteine is associated with the pathogenesis of cerebral infarction. Cystathionine β-synthase is a key enzyme in homocysteine metabolism and its genetic mutation is not a potential genetic candidate for cerebral infarction. Objective: To observe the relationship between cystathionine β-synthase gene T833C site and G919 base mutation and the incidence of ischemic stroke in young adults from the perspective of genetic variation. Design: Case-control analysis. Unit: Sino-Japanese Friendship Hospital, Jilin University, Department of Neurology. PARTICIPANTS: Case group: 100 cases, 2003-04 / 2004-12 Inpatients with Sino-Japanese Friendship Hospital, Jilin University. All patients were admitted to the hospital within 2 days of onset, younger than 45 years of age with cerebral infarction. Control group: 100 cases, for the same period to physical examination of normal young people. Methods: The levels of plasma homocysteine (Hcy) in subjects after fasting and loading were determined by high performance liquid chromatography (HPLC). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Cystathionine beta-synthase gene T833C site, G919A site was detected in all subjects. Results: 200 cases were involved in the result analysis. ① There was no significant difference in genotype distribution, homozygote frequency and allele frequency between cystathionine β-synthase gene T833C locus and G919A locus in case group and control group (P> 0.05). (2) Plasma homocysteine concentration: there was a significant difference (P <0.001) between the genotypes of G919A and T833C; LSD-t test of the two loci showed that homozygote and heterozygote, homozygote and wild type, C There was significant difference between heterozygous and wild type (P <0.05). Conclusions: ① The mutation of cystathionine β-synthase gene T833C and G919A can cause the plasma homocysteine concentration to be significantly increased. ② cystathionine β-synthase gene G919A and T833C gene mutations and the incidence of cerebrovascular disease in young people is not directly related.