兰州大学机构库 >学院待认领
Bcl I及Hind Ⅲ位点在血友病A基因诊断中的应用
Alternative TitleBcl I and Hind Ⅲ polymorphism in genetic diagnosis of hemophilia A
乔秀强
Thesis Advisor李燕平
2011-05-16
Degree Grantor兰州大学
Place of Conferral兰州
Degree Name硕士
Keyword血友病A Bcl Ⅰ位点 Hind Ⅲ位点 基因诊断
Abstract目的:血友病A (hemophilia A,HA)为最常见的 X 连锁隐性遗传性出血性疾病,遗传特点是男性患者发病,女性患者携带。本研究旨在探讨FⅧ基因内含子18的Bcl Ⅰ及内含子19的Hind Ⅲ遗传性多态性位点在HA患者及家系成员的基因诊断与携带者检出中的应用价值。方法:首先对血友病病人进行筛查和登记,筛查程序为: 一、筛选实验:硅化凝血时间(silica clotting time,SCT)、活化部分凝血活酶时间(activated partial thromboplastin time,APTT)、复钙时间(recalcification time,RT)及试管法凝血时间(tube method clotting time,CT)。二、确诊实验:凝血因子Ⅷ活性(FⅧ:C)和人第八因子相关抗原(FⅧ:Ag)。三、鉴别实验:出血时间(bleeding time,BT)、血管性血友病因子抗原(Von Willebrand factor antigen,VWF:Ag)、血浆凝血酶原时间(prothrombin time,PT)。四、排除实验 复钙交叉实验或APTT交叉实验。通过上述筛查程序确诊的8个HA患者及其家系成员共45人,运用聚合酶链反应-限制性片断多态性(Polymerase Chain Reaction-Restrict Fragment Length Polymorphism,PCR-RFLP)方法对其X染色体FⅧ基因内含子18的Bcl Ⅰ及内含子19的Hind Ⅲ位点进行多态性分析。应用中国遗传咨询网在线家系图绘制工具PediDraw软件绘制家系图。结果:根据FⅧ:C的活性8例先证者中有4例为重型(FⅧ:C活性低于健康人的1%),3例为中型(FⅧ:C活性相当于健康人的1%~5%),1人为轻型(FⅧ:C活性相当于健康人的5%~25%)。联合检测Bcl I及Hind Ⅲ位点可为8个HA家系中的5个作出诊断,诊断率约为62.57%,且有2个家系同时伴有两个位点的突变。
Other AbstractObjective: Haemophilia A(HA) is the most common X-linked recessive bleeding disorder. According to the latest survey shows the U.S. affecting one in 5000 to 10,000 males, female patients with a rare as well. It is caused by a wide variety of heterogeneous and infrequent mutations in the FVIII gene, which leads to a deficiency or dysfunctional factor VIII protein, an essential cofactor in the factor X activation complex.To investigate the application of the Bcl Ⅰ(intron 18)and Hind Ⅲ(intron 19) genetic ploymorphism in patients and family members of the diagnosis and carrier detection within FⅧ gene. Methods: First, screening and registration of patients with hemophilia A.The specific screening procedures:1.The screening tests including: Silicified clotting time (SCT), Activated partialthromb- oplastin time (APTT), Recalcification time(RT) and Clotting time tube method (CT).2.The diagnose experiments include: detection of coagulation factor Ⅷ activity(FⅧ:C) and the human factor VIII related antigen (FⅧ: Ag).3. The identification tests include: bleeding (BT), von Willebrand factor antigen (VWF: Ag), plasma prothrombin time(PT).4.The exclusion tests include: Recalcification experiments or throngh APTT crossover crossing as the exclusion experimentofthe Acquired hemophilia. These are 8 HA patients and their family members a total of 45 was comfirmed by the above screening program.The Polymerase Chain Reaction-Restrict Fragment Length Polymorphism(PCR-RFLP)was used to detect the Bcl Ⅰ(intron 18) and Hind Ⅲ (intron 19) within FⅧ gene on the X chromosome.The PediDraw software online which provided by China Genetic Counseling Network was used to draw the genealogical tree. Results: According to the activity of F Ⅷ: C among the total 8 probands, these are 4 cases of the severe (F Ⅷ: Cactivity was lower than healthy individuals of 1%), 3 cases of the HA medium (F Ⅷ: Cactivity is equivalent to healthy individuals of 1% to 5% ), an artificial light (F Ⅷ: Cactivity in healthy people the equivalent of 5% to 25%). Combined detection of the Bcl I and Hind Ⅲ genetic polymorphism site for the 8 haemophilia A family , 5 were diagnosised, diagnostic rate of about 62.57%, and there are two families accompanied by mutations in two sites. Besides,6 of 11 doubtful carriers could be made the definite diagnosis while the rate is 54.5%. Conclusion:Combination of Bcl Ⅰand Hind Ⅲ could elevate the ratio of diagnosis among HA patients and carriers.
URL查看原文
Language中文
Document Type学位论文
Identifierhttps://ir.lzu.edu.cn/handle/262010/224216
Collection学院待认领
Affiliation临床医学院
Recommended Citation
GB/T 7714
乔秀强. Bcl I及Hind Ⅲ位点在血友病A基因诊断中的应用[D]. 兰州. 兰州大学,2011.
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