摘要
应用多聚酶链反应(PCR)研究了100例正常人和103例冠状动脉粥样硬化性心脏病(简称冠心病)患者apoB基因XbaI酶切位点的限制性片段长度多态性(RFLP)。结果表明:冠心病患者和正常人均以X-等位基因为主,绝大多数为纯合子X-X-基因型。少见X+等位基因,其频率显著低于欧美白种人(P<0.001)。冠心病组中X+等位基因频率明显高于正常对照组(0.088:0.025,P<0.01)。冠心病组中X+X-基因型者高密度脂蛋白胆固醇(HDL-C)水平明显低于X-X-基因型者。XbaI酶切位点的核苷酸序列分析,cDNA第7673位核苷酸C→T突变,产生一个XbaI酶切点,即X+等位基因。推测apoB基因XbaI酶切位点的RFLP与中国人冠心病发病可能有一定关联,通过降低HDL-C水平而增加了动脉粥样硬化的易感性。
The restriction fragment length polymorphism(RFLP) at Xba Ⅰ site of the apolipoprotein B (apo B) gene was studied using polymerase chain reaction (PCR) in a sample of 100 healthy individuals and 103 patients with coronary heart disease (CHD). The results showed that in both CHD group and control group X- allele (absence of Xba Ⅰcutting site) was the major allele and homozyous X-X- genotype was the most frequent one. The frequency of rare X+ allele was significantly lower than that reported in Caucasians (P<0.001). Higher frequency of rare X+ allele(0.088) was found in CHD patients compared with controls (0. 025,P<0. 01 ).X+X- genotype was associated with lower level of HDL-C in comparison with the level of X-X- genotype in CHD group.X+ allele resulted from nucleotide C→T mutation at cDNA position 7673 on sequencing of PCR product, so that a new Xba Ⅰ cutting site was created, Therefore it is suggested that Xba Ⅰ RFLP of the apo B gene is associated with CHD to some extent in Chinese population, and presumably through its effect on HDL-C metabolism it increasing the susceptibility to CHD.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1995年第2期75-78,共4页
Chinese Journal of Medical Genetics
基金
卫生部"八五"课题
关键词
冠心病
载脂蛋白B
基因
多态性
RFLP
Coronary heart disease Apolipoprotein B gene Restriction fragment length polymorphism