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一窝斯塔福郡斗牛梗犬中四只全同胞幼犬的唇腭裂:解剖学与遗传学研究

Cleft Lip and Palate in Four Full-Sib Puppies from a Single Litter of Staffordshire Bull Terrier Dogs: An Anatomical and Genetic Study.

作者信息

Ruszkowski Jakub J, Nowacka-Woszuk Joanna, Nowak Tomasz, Rozynek Jedrzej, Serwanska-Leja Katarzyna, Gogulski Maciej, Kolodziejski Pawel, Switonski Marek, Zdun Maciej, Szczerbal Izabela

机构信息

Department of Animal Anatomy, Poznan University of Life Sciences, Wojska Polskiego 71C, 60-625 Poznan, Poland.

Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637 Poznan, Poland.

出版信息

Animals (Basel). 2023 Aug 29;13(17):2749. doi: 10.3390/ani13172749.

Abstract

Cleft lip and palate (CLP) is a well-known congenital defect in dogs, characterized by abnormal communication between the oral and nasal cavities. Its incidence rate is high and affects all dog breeds. The etiology of CLP is thought to be multifactorial, caused by both genetic and environmental factors. In this study, four puppies out of seven from a single litter of Staffordshire Bull Terrier dogs with craniofacial abnormalities were anatomically and genetically examined. Classical anatomical preparation, dyed-latex-injection of the arterial vessels, and cone-beam computed tomography were used. The puppies showed variations in their observable abnormalities: three of them had a complete cleft of the palate on both sides, while one puppy had a cleft on the right side only. Cytogenetic analysis showed a normal diploid chromosome number (2n = 78,XX or 78,XY) in the studied animals. Known genomic variants of CLP were examined in the , , and genes, but no mutations were identified. Further studies are needed to identify the breed-specific genetic variants associated with canine CLP.

摘要

唇腭裂(CLP)是犬类中一种广为人知的先天性缺陷,其特征为口腔和鼻腔之间的异常连通。其发病率较高,影响所有犬种。CLP的病因被认为是多因素的,由遗传和环境因素共同导致。在本研究中,对一窝患有颅面异常的斯塔福郡斗牛梗犬中的7只幼犬中的4只进行了解剖学和遗传学检查。使用了经典解剖标本制备、动脉血管乳胶注射染色以及锥形束计算机断层扫描。这些幼犬在可观察到的异常方面存在差异:其中3只双侧腭完全裂开,而1只仅右侧有腭裂。细胞遗传学分析显示所研究动物的二倍体染色体数目正常(2n = 78,XX或78,XY)。对CLP已知的基因组变异在 、 和 基因中进行了检测,但未发现突变。需要进一步研究以确定与犬类CLP相关的品种特异性遗传变异。

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