基因在Dens Invaginatus中的作用:一个整体外体测序研究
Mary Grace1, J Aarthi1, Arun Elangovan1
1Department of Pediatric and Preventive Dentistry, Madha Dental College & Hospital, Kundrathur, Chennai, Tamil Nadu, India.
International journal of clinical pediatric dentistry
|November 10, 2025
概括
这项研究使用了整个外体序列测序来调查密度发育 (DI) 的遗传原因. 一个KMT2D基因变异被确定在一个母亲和孩子的DI,表明一个潜在的遗传联系.
科学领域:
- 牙科 牙科是指牙科的专业.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 牙密度异常 (Dens invaginatus,简称DI) 是由于牙质器官异常而导致的牙异常.
- 像DI这样的牙异常的病因包括影响牙发育的遗传和环境因素.
- 确切的DI的基因基础在很大程度上是未知的.
研究的目的:
- 通过使用整个外基因组测序来研究dens invaginatus的遗传基础.
- 识别与DI相关的潜在致病基因变异.
- 推进对DI病因及其相关风险因素的理解.
主要方法:
- 整体外体序列测序 (WES) 是从受DI影响的母亲和儿童的血液样本上进行的.
- 遗传分析的重点是确定受影响个体之间共享的基因变异.
主要成果:
- 确定KMT2D基因 (c.15907C>T) 中的一种特定变异是母亲和孩子共同的.
- 在这种情况下,这种KMT2D变异被提出为dens invaginatus的潜在致病因素.
结论:
- 这项研究有助于理解Dens invaginatus的遗传病因.
- 鉴定遗传因素可能有助于避免DI风险因素,并开发未来的治疗方法.
- 需要对基因治疗和DI的再生医学进行进一步的研究.
更多相关视频
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.6K
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
12.6K
相关概念视频
Genomics
39.6K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.6K
Next-generation Sequencing
97.6K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
97.6K
Genome-wide Association Studies-GWAS
15.3K
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...
15.3K
Exon Recombination
4.1K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
4.1K
