囊性赤道球菌感染易感性由与抗原处理1和2基因相关的载体多态性增加
Susan Jabbaripour1, Siamak Sandoghchian Shotorbani2, Adel Spotin3
1Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran; Department of Parasitology and Mycology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Experimental parasitology
|April 18, 2025
概括
在TAP1和TAP2基因的遗传变异与水症易感性有关. 在TAP1-637和TAP2-379中的特定等位基因和基因型增加了寄生虫感染的风险,突出显示了它们在免疫反应中的作用.
科学领域:
- 免疫遗传学 免疫遗传学
- 寄生虫学的寄生虫学
- 分子生物学分子生物学
背景情况:
- 宿主对寄生虫疾病的易感性,如水症受免疫功能和宿主遗传学的影响.
- 在TAP1和TAP2基因中的单核酸多态 (SNP) 是影响免疫反应和疾病易感性的潜在因素.
研究的目的:
- 调查TAP1 (codon 637) 和TAP2 (codon 379) 基因中的特定单核酸多态 (SNPs) 与囊性乙核球菌病的风险之间的关联.
- 通过对感染个体的基因变异进行分析,与健康对照相比,通过分析感染个体的基因变异来确定水症的遗传风险因素.
主要方法:
- 采用了病例控制研究设计,涉及76名确诊水囊瘤患者和76名健康对照.
- 从血液样本中提取DNA,并使用放大耐火突变系统-聚合酶链反应 (ARMS-PCR) 技术来识别特定的基因型.
- 在样本的子集上进行了测序,以验证ARMS-PCR结果并确保基因型的准确性.
主要成果:
- 感染群体表现出异构体Asp/Gly基因型和TAP1基因637号码的Gly等位基因的显著更高的频率 (P <0.05).
- 患有囊性赤道球菌病的个体也显示了异构 Val/Ile 基因型和 TAP2 基因 (P < 0.05) 379 号码的 Ile 基因的更高流行率.
结论:
- 在TAP1编码子637中的Gly等位基因和Asp/Gly基因型与囊性赤道球菌病的遗传风险增加有关.
- 在TAP2编码子379中的Ile等位基因和Val/Ile基因型被确定为发展水症的遗传风险因素.
相关概念视频
01:39Epistasis
43.8K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
43.8K
01:31ABC Transporters: Exporter
4.1K
ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...
4.1K
01:27Glucose Transporters
22.2K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.2K
01:27ABC Transporters: Importer
2.7K
ATP-binding cassette or ABC transporters are a class of ATP-driven pumps that hydrolyze ATP to move solutes across the membrane. They can be grouped into importers and exporters. While exporters are present in all domains of life, importers exist only in bacteria and some plants.
In bacteria, based on the number of transmembrane helices and the chemical nature of their substrates, the ABC importers can be divided into three types:
In bacteria, based on the number of transmembrane helices and the chemical nature of their substrates, the ABC importers can be divided into three types:
2.7K
01:05Single Nucleotide Polymorphisms-SNPs
13.6K
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,...
13.6K
01:23Cystic Fibrosis: Pathogenesis
136
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,...
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,...
136