与先天性纤维素异常相关的遗传突变:全球分布和临床结果
在PubMed上查看摘要
概括
此摘要是机器生成的。遗传性纤维素疾病 (CFD) 涉及导致出血或凝血的遗传突变. 这一综述绘制了全球突变分布和表型图,突出显示了低收入地区的数据缺口,以实现公平的罕见疾病管理.
科学领域
- 遗传学
- 血液学
- 罕见疾病
背景情况
- 从无症状病例到严重出血或血栓形成,先天性纤维素疾病 (CFD) 的临床结果各不相同.
- FGA,FGB或FGG基因的基因突变是CFD的基础,使诊断复杂化,特别是在资源有限的环境中.
研究的目的
- 绘制CFD相关基因突变的全球分布图.
- 将特定突变与世界不同地区的相应临床表型相关联.
主要方法
- 来自MEDLINE和法国血液静止和血栓形成研究小组 (GFHT) 数据库的132项研究的系统审查.
- 基于联合国区域分类的定性数据组织.
- 分析了1000多种突变描述,确定了大约340种独特的突变.
主要成果
- FGA突变与dys或afibrinogenemia有关;FGB突变与hypo或afibrinogenemia有关;FGG突变与dys或hypofibrinogenemia有关.
- 常见的突变包括FGA内基变异 (非纤维化/低纤维化),FGB p.Arg47stop (非纤维化/低纤维化) 和FGG外8突变 (dys-/低纤维化).
- 缺血蛋白与FGA外因子2突变 (通常无症状) 和FGG外因子8突变 (与血栓形成有关) 相关.
结论
- 大多数CFD突变和表型数据来自西欧,北美和东亚.
- 对于拉丁美洲,东南亚和非洲存在重大数据缺口,这阻碍了对这些罕见疾病的公平管理.
- 在低收入和中等收入国家进行进一步的研究对于全面了解CFD和患者护理至关重要.
相关概念视频
Overview
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Consequences of Point Mutations at the Molecular Level
Mutations that occur at a single nucleotide...
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects...
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...
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

