血友病是一种通过分析因子VIII基因内的超变性二核酸重复的诊断
M R Lalloz1, J H McVey, J K Pattinson
1Haemostasis Research Group, Clinical Research Centre, Harrow, Middx, UK.
Lancet (London, England)
|July 27, 1991
概括
一种新的遗传标记物,内13 (CA) n重复,显著改善了对血友病A诊断的第八因子基因的跟踪. 与以前的方法相比,这种高度信息化的标志物为家庭研究提供了更快的结果.
科学领域:
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 血友病A的诊断和携带者鉴定在理解第八因子基因结构的过程中取得了进展.
- 限制片段长度多态 (RFLPs) 能够跟踪家族中的遗传缺陷,但耗时.
- 在因子VIII基因中存在一种替代的多态标记物,即二核酸重复 (CA) n.
研究的目的:
- 为了研究中13 (CA) n重复作为血友病A.的遗传标记物的实用性.
- 评估这个 (CA) n在家族研究中重复的信息性和遗传模式.
主要方法:
- 传统的映射将 (CA) n重复定位到因子VIII基因的13号内.
- 聚合酶链反应 (PCR) 用于分析92个个体的基因组DNA中的 (CA) n重复变异性.
- 进行了家庭研究,以检查X链接的孟德尔遗传和与血友病A的联系.
主要成果:
- 确定了 (CA) n重复的八个等位基带,其长度从n=16到n=24.
- 研究中的91%的雌性对这种重复异构,表明高多态性.
- 内部13 (CA) n重复表明与已确定的RFLPs密切联系,并在家族研究中准确跟踪血友病A.
结论:
- 内体13 (CA) n重复是血友性A亲属中因子VIII基因跟踪的高度信息化的遗传标记物.
- 这种标记器允许快速分析,在一天内获得结果,改进了以前的方法.
- 虽然它需要来自家庭成员的DNA,但它为血友病A的遗传研究提供了显著的进步.
相关概念视频
Blood Types
Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
Blood Transfusion and Agglutination
Blood transfusion is a therapeutic measure to restore the blood volume after extensive blood loss due to an accident or a medical procedure. Blood transfusion involves drawing a certain amount of blood from a suitable donor and infusing it into the recipient.
History
The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...
History
The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...
Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
Anticoagulant Drugs: Low-Molecular-Weight Heparins
Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
Disorders of Hemostasis
Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Blood Typing
Understanding an individual's blood group is a critical component of transfusion medicine. It ensures compatibility in blood transfusions, organ transplants, and even during pregnancy. Determining these blood groups involves the ABO and Rh blood typing systems, utilizing specific antigens and corresponding anti-sera to identify an individual's blood type.
Antigens are protein molecules that reside on the surface of red blood cells (RBCs). The ABO and Rh blood typing systems target antigens A,...
Antigens are protein molecules that reside on the surface of red blood cells (RBCs). The ABO and Rh blood typing systems target antigens A,...


