在结性脊椎炎患者中发生的梅瓦诺酸激酶基因多态:一个横截面研究
Fatih Yıldız1, Suzan Dinkçi2, Eren Erken3
1Department of Internal Medicine, Division of Rheumatology, Kahramanmaraş Sütçü Imam University Faculty of Medicine, Kahramanmaraş, Türkiye.
Archives of rheumatology
|September 8, 2023
概括
在结性脊椎炎患者中,梅瓦酸激酶 (MVK) 基因多态变异更频繁,但没有显著影响疾病活性或临床发现. 这表明MVK多态可能不是AS病变或呈现的主要因素.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 类风湿病学 类风湿病学
背景情况:
- 化脊柱炎 (AS) 是一种慢性炎症性疾病,主要影响轴骨架.
- 遗传因素的作用,包括美酸酶 (MVK) 基因多态性,在AS的发病过程中需要进一步调查.
研究的目的:
- 调查MVK基因多态化与AS的发病和临床表现之间的关联.
- 为了比较AS患者和健康对照人群中MVK基因多态度的频率.
主要方法:
- 一项涉及51名AS患者和52名健康对照者的横截面研究.
- 使用聚合酶连锁反应测序的MVK基因分析.
- 对临床和实验室发现的评估,包括浴性脊柱炎疾病活动指数,浴性脊柱炎功能指数,红细胞沉积率,C反应蛋白和血清IgD水平.
主要成果:
- 与对照组 (63.4%) 相比,AS患者的MVK基因多态变异频率更高 (70.6%),但这种差异在统计学上并不显著.
- 两组之间症状或非症状单核酸多态 (SNPs) 的频率没有显著差异.
- 在AS患者中,MVK基因多态和临床或实验室发现之间没有发现关联.
结论:
- 虽然MVK基因多态变异在AS患者中更频繁,但这种差异在统计学上并不显著.
- 该研究没有发现任何证据表明MVK基因多态性影响结性脊髓炎的临床或实验室特征.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
15.2K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.2K
ATP Synthase: Mechanism
14.7K
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
14.7K
Animal Mitochondrial Genetics
7.6K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.6K
Multiple Allele Traits
34.3K
The Concept of Multiple Allelism
34.3K
Translation
14.9K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
14.9K
Mitral Stenosis I: Introduction
15
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
15


