论文部分内容阅读
凝血因子Ⅷ(FⅧ)是血液凝固过程中起重要作用的一种血浆蛋白,其基因缺陷可导致临床上常见的遗传性出血性疾病——血友病A。本研究应用聚合酶链反应(PCR)技术扩增FⅧ基因的BclⅠ和Xba Ⅰ的特异片段,经酶解后分析酶切位点限制性片段长度多态性(RFLP),BclⅠ的多态信息量(PIC) 为0.36,XbaⅠ为0.49,联合应用则为0.67。在30名受检女性中,BclⅠ杂合频率为40％,XbaⅠ为53％,联合应用则为76％。15个家系中,10个可采用BclⅠ或XbaⅠ进行RFLP分析。对这些家系中19名可疑携带者进行检测,结果诊断出8名基因携带者。
Blood coagulation factor Ⅷ (F Ⅷ) is a plasma protein that plays an important role in the process of blood coagulation, and its genetic defects can lead to hereditary hemorrhagic disease - hemophilia A, which is a common clinical disease. In this study, specific fragments of BclI and XbaI of FⅧ gene were amplified by polymerase chain reaction (PCR) technique. Restriction fragment length polymorphism (RFLP), restriction fragment length polymorphism (RFLP) (PIC) was 0.36, XbaI was 0.49, combined application was 0.67. Of the 30 subjects tested, the frequency of BclI hybridization was 40%, for Xba I 53% and for combined use 76%. Of the 15 families, 10 can be RFLP analyzed using BclI or XbaI. Nineteen suspicious carriers of these families were tested, resulting in the diagnosis of eight gene carriers.