青年缺血性脑卒中与健康对照组血浆胱硫醚β合成酶G919A基因突变的相关性

Association between ischemic stroke of youth and mutation of plasma cystanthionine beta synthetase G919A gene in the healthy control group

目的:分析同型半胱氨酸血症、同型半胱氨酸代谢关键酶胱硫醚β合成酶基因突变与青年缺血性脑卒中的关系。方法:选择2003-04/2004-12吉林大学中日联谊医院住院青年脑梗死患者100例为病例组,均是发病2d内住院、年龄≤45岁者;对照组100例为同期来院体检的正常青年人。采用病例-对照分析方法,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合成酶基因G919A位点进行检测。结果:200例均进入结果分析。①病例组和对照组基因型分布和等位基因的频率比较:纯合15%/13%,杂合型33%/32%,野生型52%/55%;突变等位基因63%/58%,未突变等位基因137%/142%。差异均没有统计学意义(P>0.05)。②血浆同型半胱氨酸浓度:纯合型为(17.36±4.18)μmol/L,杂合型为(16.52±3.27)μmol/L,野生型为(8.72±2.26)μmol/L,胱硫醚β合成酶G919A各基因型间比较差异显著(P<0.001),纯合子与杂合子,纯合子与野生型,杂合子与野生型间比较差异显著(P<0.05)。结论:①胱硫醚β合成酶G919A突变可导致血浆同型半胱氨酸浓度均明显增高。②胱硫醚β合成酶G919A基因突变与青年缺血性脑卒中发病无相关性。

AIM： To analyze relationship of hyperhomocysteinemia and mutation of cystanthionine β synthetase gene with iscbemic stroke of the youth. METHODS： Totally 100 youth patients with cerebral infarction, who hospitalized at Chinese Japanese Friendship Hospital, Jilin University between April 2003 and December 2004, were enrolled as case group. The patients aged at most 45 years all hospitalized within 2 days after episode. 100 normal youths who did examination at the same period, were selected as control group. Using case-control analysis, fasting and post-loading levels of plasma homocysteic acid were examined with high performance liquid chromatography. Gene G919A site of gysta;nthionine β synthetase detected with pelymerase chain-restriction fragment length polymorphism and armplification refractory mutation system （ARMS）. RESULTS： Totally 200 cases were involved in the result analysis. ① Comparison of genetype distribution and allelic frequency in the case group ＂and the control group： There were homozygosis 15 %/13 %, beterozygosis 33 %/32 %, wild type 52 %/55 %; mutation allele 63%/ 58%, non-mutation allele 137%/142%. There was no statistical significant difference （P 〉 0.05）. ②Concentration of plasma homocysteic acid： Concentration of homozygotic type was （ 17.36±4.18 ） μmol/L; Concentration of heterozygosis was （16.52±3.27） μmol/L; Concentration of wild type was （8.72±2.26） μmol/L. There were obvious differences among each geuetype of cystanthionine β synthetase G919A （P 〈 0.001 ）. There were marked differences between homozygote and heterozygote, between homozygote and wild type as well as between heterozygote and wild type （P 〈 0.05）. CONCLUSION： ①Mutation of cystanthionine β synthetase G919A can induce the obvious increasing of concentration of plasma homocysteic acid. ②The mutation of cystanthionine β synthetase G919A is not associated with the onset of ischemic stroke of youth.