摘要
应用聚合酶链反应（ＰＣＲ）研究１００例正常人和１０３例冠心病人载脂蛋白Ｂ（ａｐｏＢ）基因ＥｃｏＲＩ酶切位点的限制性片段长度多态性（ＲＦＬＰ）。结果表明：（１）正常人和冠心病人均以Ｅ＋等位基因为主，绝大数为纯合子Ｅ￣＋Ｅ￣＋基因型；（２）冠心病组中少见Ｅ等位基因相对频率为０．１１，明显高于正常对照组的０．０４（Ｐ＜０．０１）；（３）冠心病组中脂蛋白（ａ）水平≥０．３ｇ／Ｌ者，Ｅ￣－等位基因频率明显高于相应的低水平者，两者间关联的机制还不明了；（４）对ＥｃｏＲＩ酶切位点的核苷酸序列分析，Ｅ－等位基因系ｃＤＮＡ１２６６９位核昔酸Ｇ→Ａ突变所致，原有的ＥｃｏＲＩ酶切点消失。
Restrictive fragment length polyrnorphism (RFLP) at EcoRI site of the apolipoprotein B(apo B) gene was studied using polymerase chain reaction (PCRI in sarnples of 100 health individuals and108 patients with coronary heart disease (CHD). The results were shown as follows : (1) E+ allele wasdominat and also homozygous E+E+ genotype was most frequently observed in both controls and CHD pa-tients. (2) The relative frequency of rare E allele was significantly higher in CHD group than in the con-trol group (0. 11 vs 0. 04 , P<0. 01). (3)The relative frequency of rare E- allele was apparently higherin the patients with plasma level of Lp (a )>0. 3g/L-compared to that in those with LP tai<0. 3g/L (0.19vs 0. 06, P<0. 01). The mechanism was unclear. (4) Sequencing of PCR product showed that E allelewas caused by rnutation nucleotide G→A at position 12669 of cDNA , thus EcoRI cutting site was deleted.
出处
《解放军医学杂志》
CAS
CSCD
北大核心
1994年第3期180-183,共4页
Medical Journal of Chinese People's Liberation Army
关键词
冠心病
载脂蛋白
B基因
多态性
Coronary heart disease
Apolipoprotein B gene
Restrictive fragment length polyrnor-phism
