BRAF突变分析:对8365个诊断样本进行回顾性评估,对犬种进行特别观察 (2018-2024年)
Marielle Appenzeller1, Alexandra Kehl1,2, Katrin Törner1
1LABOKLIN GmbH & Co. KG, 97688 Bad Kissingen, Germany.
Veterinary sciences
|August 28, 2025
概括
在狗中进行常规的BRAF V595E突变分析有助于诊断尿道癌 (UC). 特定品种的突变概率增加,表明从5岁开始进行特定品种的查.
科学领域:
- 兽医瘤学
- 狗病理学
- 分子诊断
背景情况:
- 这种BRAF V595E突变是狗尿癌 (UC) 的关键标志物.
- 尽管它用于诊断,但对狗BRAF突变的流行情况缺乏全面的数据分析.
- 了解人口和特定品种的分布对于有针对性的诊断至关重要.
研究的目的:
- 分析BRAF V595E突变检测的狗样本中的年龄,性别和品种分布.
- 为了确定携带与UC相关的BRAF突变的可能性较高的品种.
- 建立潜在的年龄建议,以对易受感染的品种进行查.
主要方法:
- 在2018年至2024年间对8365只狗诊断样本 (尿液,细胞学,组织学) 的分析.
- 使用滴状数字PCR (ddPCR) 检测BRAF V595E突变
- 统计分析包括逻辑回归模型 (odds比) 来评估特定品种的概率.
主要成果:
- 一些品种,包括苏格兰牧羊犬和夏特兰牧羊犬,显著增加了BRAF突变的几率.
- 在易受感染的品种中,最年轻的BRAF阳性狗在5岁时被发现.
- 数据提供了首次公布的BRAF突变在大型犬类诊断队列中的流行率分析.
结论:
- 在狗UC中明显存在对BRAF V595E突变的品种倾向.
- 在危险品种中,从5岁开始对BRAF突变进行查可能是有益的.
- 这项研究为完善犬尿癌的诊断和查策略提供了必要的数据.
更多相关视频
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
12.3K
07:17Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
Published on: August 23, 2024
1.3K
相关概念视频
Pedigree Analysis
85.1K
Overview
85.1K
Incomplete Dominance
25.4K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.4K
Animal Mitochondrial Genetics
8.0K
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...
8.0K
