相关实验视频
Updated: Jun 29, 2025

11:44
Author Spotlight: Exploring the Impact of Trauma on Cellular Aging
Published on: March 22, 2024
1.7K
ZNF676,CTC1基因多态和相对白细胞端粒长度与近视及其程度之间的关联
Monika Duseikaite1,2, Alvita Vilkeviciute1, Edita Kunceviciene3
1Laboratory of Ophthalmology, Institute of Neuroscience, Lithuanian University of Health Sciences, Eivenių Street 2, LT-50161 Kaunas, Lithuania.
Biomedicines
|March 28, 2024
概括
诸如ZNF676和CTC1基因多态性等遗传因素会影响近视的发展和严重程度. 较短的端粒与更糟糕的近视有关,但某些基因型可能会提供对高近视的保护.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 近视的发展受到影响,影响眼睛生长的遗传和环境因素之间的复杂相互作用.
- 相对白细胞端粒长度 (相对LTL) 是细胞衰老的潜在生物标志物,可能与近视的进展有关.
研究的目的:
- 调查ZNF676和CTC1基因多态性和近视中的相对LTL之间的关联.
- 探索这些遗传变异,相对LTL和近视程度之间的关系.
主要方法:
- 使用实时聚合酶链反应 (RT-PCR) 进行ZNF676 rs412658和CTC1 rs3027234多态的基因定型.
- 在近视患者和健康对照中测量白细胞相对端粒长度 (相对LTL).
- 对基因型分布,等位基因频率及其与近视严重程度的相关性进行统计分析.
主要成果:
- 对CTC1 rs3027234罕见等位基因的同卵性与近视患者显著较短的相对LTL有关.
- 与对照组相比,ZNF676 rs412658 CC基因型与近视组中白细胞端粒的缩短有关.
- 携带ZNF676 rs412658CT基因型的携带者显示,高近视的几率降低了4倍,T等位基因与类似的保护有关.
结论:
- 在男性中,CTC1 rs3027234 TT基因型可以提供对端粒缩短的保护.
- 端粒缩短似乎与近视严重程度的增加有关.
- ZNF676 rs412658 T基因组可能在预防高近视方面发挥保护作用.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
15.0K
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,...
15.0K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Genome-wide Association Studies-GWAS
13.4K
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...
13.4K
Telomeres and Telomerase
23.3K
In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded...
23.3K
Pleiotropy
40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K

