关键词: ADAMTS20 DLX6 MYH3 cleft lip congenital malformation dog genes palatal clefts

来  源:   DOI:10.3390/ani13172749   PDF(Pubmed)

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 ADAMTS20, DLX6, and MYH3 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)是狗的一种众所周知的先天性缺陷,以口腔和鼻腔之间的异常沟通为特征。它的发病率很高,影响所有犬种。CLP的病因被认为是多因素的,由遗传和环境因素引起。在这项研究中,对StaffordshireBullTerrier犬的七只幼犬中的四只进行了解剖学和遗传学检查。经典解剖学准备,染色乳胶注射动脉血管,使用锥形束计算机断层扫描。幼犬在可观察到的异常方面表现出差异:其中三只在两侧都有完全的腭裂,而一只小狗只有右侧有一个裂口。细胞遗传学分析显示,在研究的动物中,二倍体染色体数目正常(2n=78,XX或78,XY)。在ADAMTS20,DLX6和MYH3基因中检查了CLP的已知基因组变体,但没有发现突变。需要进一步的研究来确定与犬CLP相关的品种特异性遗传变异。
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