【摘要】 目的　建立一种简便、快速、准确、实用的人载脂蛋白 (a)五核苷酸串联重复序列(pentanucleotiderepeats,PNR)基因型的检测方法。方法　应用聚合酶链反应 (PCR)特异性扩增Apo(a)5′端调控区PNR ,扩增产物用 6 %的变性聚丙烯酰胺凝胶电泳结合硝酸银染色 ,观察Apo(a)PNR的多态性。结果　应用该法检测了 15 3例健康人Apo(a) 5′端调控区PNR基因型 ,共检出 7种等位基因和11种基因型 ,等位基因和基因型均以 (TTTTA)n串联重复序列拷贝数表示。等位基因频率分别为4(0 0 0 7) ,5 (0 .0 2 6 ) ,7(0 .0 0 6 ) ,8(0 .74) ,9(0 .2 13) ,10 (0 .0 0 7) ,11(0 .0 0 3)。基因型频率分别为4/ 8(0 .0 0 7) ,4/ 9(0 .0 0 7) ,5 / 8(0 .0 39) ,5 / 9(0 .0 13) ,7/ 8(0 .0 13) ,8/ 8(0 .5 5 7) ,8/ 9(0 .2 94) ,8/ 10 (0 .0 0 7) ,8/ 11(0 .0 0 7) ,9/ 9(0 0 5 2 ) ,9/ 10 (0 .0 0 7)。结论　该方法简便、快速、重复性好 ,适于一般实验室开展及大规模人群调查。更多还原

【Abstract】 Objective To establish a simple, rapid, accurate method for detecting the pentanucleotide repeats (PNR) genotype of human apolipoprotein (a) [Apo(a)].Method The PNR in the 5′ control region of the Apo(a) was amplified by using polymerase chain reation (PCR). The PCR products were subjected to electropherosis on 6% denature polyacrylamide gels. The gels were stained with AgNO 3 and genotypes of the PNR were distinguished.Results Using this method, we detected the PNR genotypes in the 5′ control region of the Apo(a) gene in 153 health individuals. We detected 11 different genotypes and 7 different alleles containing 4, 5, 7, 8, 9, 10 or 11 PNR with PCR product lengths ranging from 76 to 111 bp. Allele frequence distributions were 4 (0.007), 5(0.026), 7(0.006), 8((0.74), 9(0.21), 10(0.007) and 11(0.003). Distributions of prevalence genotype frequencies were 4/8(0.007), 4/9(0.007), 5/8(0.039), 5/9(0.013), 7/8(0.013), 8/8(0.557), 8/9(0.294), 8/10(0.007), 8/11(0.007), 9/9(0.052), and 9/10(0.007) respectively.Conclusion This method is considered to be a simple and rapid technique for obtaining accurate result. It is suitable for routine laboratories and large scale population studies.更多还原