论文部分内容阅读
血友病甲是一种较为常见的伴性隐性遗传性出血性疾病。由凝血因子Ⅷ(FVⅢ)基因缺陷所致。其发病率为1/5000的男性。目前,该病的治疗还局限于替代疗法。遗传咨询对该病的预防和人口素质的提高都将大有裨益。本文报道了应用快速有效的聚合酶链反应(PCR)技术对血友病甲家系进行的基因连锁分析和携带者诊断。材料与方法一、样品:血友病甲患者由苏州医学院附属第一医院血液科确诊。患者及其家系成员各取外周血5～10ml,EDTA 抗凝。白细胞基因组DNA 提取方法同前报道(苏州医学院学报1991;11(1):45)。
Hemophilia A is a more common inherited hereditary hemorrhagic disease. By the coagulation factor Ⅷ (FV Ⅲ) gene defects caused. The incidence of 1/5000 males. At present, the treatment of the disease is also limited to alternative therapies. Genetic counseling on the prevention of the disease and improve the quality of the population will be of great benefit. This article reports the genetic linkage analysis and carrier diagnosis of hemophilia A family using rapid and effective polymerase chain reaction (PCR). Materials and methods First, the sample: Hemophilia A patients diagnosed by Department of Hematology, First Affiliated Hospital of Suzhou Medical College. Patients and their family members take the peripheral blood 5 ~ 10ml, EDTA anticoagulant. Leukocyte genomic DNA extraction methods previously reported (Suzhou Medical College 1991; 11 (1): 45).