摘要
目的探讨载脂蛋白B基因（apolipoprotein B，apo B）C7673T多态与长沙地区汉族人群有家族聚集现象脑出血的关系。方法 采用聚合酶链反应，限制性片段长度多态性分析法和DNA直接测序法检测长沙地区汉族15个有家族聚集现象脑出血家系117名成员、93例散发脑出血患者和100名正常对照者的apoB基因C7673T多态；氧化酶法测定血清甘油三酯、总胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇水平，酶联免疫吸附法测定脂蛋白（a）浓度，免疫比浊法测定apoBl00及apoA Ⅰ浓度。结果（1）家系组脑出血患者组及其Ⅰ、Ⅱ、Ⅲ级亲属组、散发脑出血组和对照组apoB基因C7673T多态T等位基因频率分别为0．176、0．136、0．058、0．048、0．081、0．040。（2）家系组脑出血患者组及其Ⅰ级亲属组apoB基因C7673T多态T等位基因频率显著高于对照组（P〈0．01，P〈0．01），而家系组Ⅱ、Ⅲ级亲属组与对照组相比差异无统计学意义（P〉0．05）；家系组脑出血患者组apoB基因C7673T多态T等位基因频率显著高于散发脑出血组（P〈0.05）。（3）家系组脑出血患者组及散发脑出血组中，apoB基因C7673T多态TC基因型较CC基因型的总胆固醇、低密度脂蛋白胆固醇显著增高，而高密度脂蛋白胆固醇显著降低（P〈0．05），其它指标差异无统计学意义（P〉0．05）。结论 apoB基因C7673T多态T等位基因可能与长沙地区汉族人群有家族聚集现象脑出血有关；apoB基因C7673T多态T等位基因可能通过改变血脂水平影响脑出血的发生发展。
Objective To investigate the relationship between C7673T polymorphism of apolipoprotein B （apoB） and cerebral hemorrhage with family history （CHFH） in Chinese Han in Changsha, Hunan province. Methods Fifteen families of CHFH and 93 sporadic cerebral hemorrhage patients and 100 normal controls were collected. The C7673T polymorphism of apoB was analyzed by PCR-restriction fragment length polymorphism and direct DNA sequencing. The triglyceride（TG）, total cholesterol （TC）, high density lipoprotein-cholesterol （HDL-C） and low density lipoprotein-cholesterol（LDL-C） levels were examined by oxidase method. The serum level of lipoprotein （a） was determined by immune method. Results （ 1 ） The allele T frequencies of apoB C7673T polymorphism in cerebral hemorrhage patients with family history, first-degree relatives, second-degree relatives, third-degree relatives, the sporadic cerebral hemorrhage patients and the control group were 0.176, 0.136, 0.058, 0.048, 0.081 and 0.040, respectively. （2） The allele T frequencies of apoB C7673T polymorphism in CHFH patients and their first-degree relatives were significantly higher than that of the control group （ P 〈 0.01, P 〈 0.01）, while there was no significant difference among second-degree relatives, third-degree relatives and control group （P 〉 0.05）. And the allele T frequency of apoB C7673T in CHFH patients was significantly higher than that of sporadic cerebral hemorrhage patients （ P 〈 0.05 ）. （3） In CHFH patients and sporadic cerebral hemorrhage group, the levels of TC and LDL-C of the TC genotype were significantly higher than those of the CC genotype, while the level of HDL-C in the TC genotype was significantly lower than that of the CC geneotype （ P 〈 0.05）. Conclusion （ 1 ） The allele T of apoB C7673T polymorphism may be related to cerebral hemorrhage with family history. （2） The allele T of apoB C7673T polymorphism may increase the susceptibility of cerebral hemorrhage by changing blood lipid levels.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第2期145-149,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（30600199）
关键词
载脂蛋白B
家族聚集现象
脑出血
遗传多态性
apolipoprotein B
family history
cerebral hemorrhage
genetic polymorphism
