摘要
目的：建立检测家族性载脂蛋白Ｂ－１００缺陷症（ＦＤＢ）的方法和研究ＦＤＢ与高脂血症和冠心病的关系。方法：用聚合酶链反应扩增载脂蛋白Ｂ－１００基因特定片段，以非放射性物质地高辛标记等位基因特异性寡核苷酸作为探针与扩增产物杂交，检测突变载脂蛋白Ｂ基因。结果：在１０３例高脂血症患者中发现１例突变，１００例冠心病患者中有２例突变，３４５例正常人中无突变者。结论：该基因与脂质代谢和冠心病有关；本试验方法简便、稳定。
Objective:To establish a method of determining familial defective apolipoprotein B 100(FDB)and to observe relation of FDB with hyperlipidemia and coronary heart disease. Methods:Polymerase chain reaction(PCR)was used for local amplification of section of human apo B gene,the amplified genomic deoxyribonucleic acid(DNA)were dot blot hybridized with digoxigenin labeled allele specific oligonuleotide(ASO)probes. Results:We detected this mutation frequencies among 103 unrelated individuals with hyperlipidemia,among 100 unrelated individuals with coronary heart disease and among 345 unrelated normal individuals of Chinese.The frequency of this mutation was 1 among individuals with hyperlipidemia,2 among individuals with coronary heart disease,and was not found in healthy individuals. Conclusions:FDB was associate with hyperlipidemia and coronary heart disease.We suggest that this method can be widely used in routine molecular screening.
出处
《中国循环杂志》
CSCD
北大核心
1998年第5期284-286,共3页
Chinese Circulation Journal
关键词
高脂血症
冠心病
FDB
Familial defective apolipoprotein B 100
Hyperlipidemia
Coronary heart disease
