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雪纳瑞犬种中KITLG基因拷贝数的种系变异及其与黑色巨型雪纳瑞犬数字鳞状细胞癌的相关性。

KITLG Copy Number Germline Variations in Schnauzer Breeds and Their Relevance in Digital Squamous Cell Carcinoma in Black Giant Schnauzers.

作者信息

Aupperle-Lellbach Heike, Heidrich Daniela, Kehl Alexandra, Conrad David, Brockmann Maria, Törner Katrin, Beitzinger Christoph, Müller Tobias

机构信息

LABOKLIN GmbH & Co. KG, 97688 Bad Kissingen, Germany.

Institut für Bioinformatik, Universität Würzburg, 97070 Würzburg, Germany.

出版信息

Vet Sci. 2023 Feb 11;10(2):147. doi: 10.3390/vetsci10020147.

Abstract

Copy number variations (CNVs) of the KITLG gene seem to be involved in the oncogenesis of digital squamous cell carcinoma (dSCC). The aims of this study were (1) to investigate KITLG CNV in giant (GS), standard (SS), and miniature (MS) schnauzers and (2) to compare KITLG CNV between black GS with and without dSCC. Blood samples from black GS (22 with and 17 without dSCC), black SS (18 with and 4 without dSSC; 5 unknown), and 50 MS (unknown dSSC status and coat colour) were analysed by digital droplet PCR. The results are that (1) most dogs had a copy number (CN) value > 4 (range 2.5-7.6) with no significant differences between GS, SS, and MS, and (2) the CN value in black GS with dSCC was significantly higher than in those without dSCC ( = 0.02). CN values > 5.8 indicate a significantly increased risk for dSCC, while CN values < 4.7 suggest a reduced risk for dSCC (grey area: 4.7-5.8). Diagnostic testing for KITLG CNV may sensitise owners to the individual risk of their black GS for dSCC. Further studies should investigate the relevance of KITLG CNV in SS and the protective effects in MS, who rarely suffer from dSCC.

摘要

KITLG基因的拷贝数变异(CNV)似乎与指部鳞状细胞癌(dSCC)的肿瘤发生有关。本研究的目的是:(1)调查巨型雪纳瑞犬(GS)、标准雪纳瑞犬(SS)和迷你雪纳瑞犬(MS)的KITLG CNV;(2)比较患dSCC和未患dSCC的黑色GS犬的KITLG CNV。通过数字液滴PCR分析了黑色GS犬(22只患dSCC和17只未患dSCC)、黑色SS犬(18只患dSCC和4只未患dSCC;5只情况未知)以及50只MS犬(dSCC状态和毛色未知)的血样。结果显示:(1)大多数犬的拷贝数(CN)值>4(范围为2.5 - 7.6),GS、SS和MS之间无显著差异;(2)患dSCC的黑色GS犬的CN值显著高于未患dSCC的犬( = 0.02)。CN值>5.8表明dSCC风险显著增加,而CN值<4.7表明dSCC风险降低(灰色区域:4.7 - 5.8)。对KITLG CNV进行诊断检测可能会使主人意识到其黑色GS犬患dSCC的个体风险。进一步的研究应调查KITLG CNV在SS犬中的相关性以及在极少患dSCC的MS犬中的保护作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b52/9966798/ae09c1ad5644/vetsci-10-00147-g001.jpg

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