用SNP芯片检测家犬染色体非整倍体的新方法。

Jaime Garcia-Heras
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引用次数: 0

摘要

目的:最近的一份报告描述了首次在狗身上使用CMA的新方法,在2053只纯种和杂交狗中发现了三例体质非整倍体。这一进展是非常重要的,因为用传统方法对家养狗进行细胞遗传学分析在技术上是困难的,并且可能无法最终确定所有的异常。随着CMA检测技术成为常规临床基因检测的一部分,CMA检测的成功预示着发现更多犬非整倍体病例的潜力。总的来说,CMA的广泛使用有可能揭示更广泛的导致犬类疾病的染色体异常,更详细地表征犬类核型(正常和异常),并提供对研究人类疾病有用的动物模型的全面细胞基因组数据。由于为CMA开发的平台也允许对犬类基因疾病进行突变分析,因此这一额外的技术功能允许仅一步即可进行成本效益高且全面的基因检测诊断。
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The Novel Detection of Chromosomal Aneuploidy by SNP Microarray Tests in Domestic Dogs.

Objectives: A recent report described a novel use of CMA for the first time in dogs that uncovered three cases of constitutional aneuploidy among 2,053 purebred and mixed-breed dogs. This advance is very significant because cytogenetic analysis by traditional methods in domestic dogs is technically difficult and may not conclusively identify all the abnormalities. This success with CMA testing anticipates the potential to discover more cases of canine aneuploidies as this technology becomes part of routine clinical genetic testing. As a whole, extended use of CMA is likely to uncover a wider range of chromosomal abnormalities that cause canine diseases, characterize in more detail the canine karyotype (normal and abnormal), and provide thorough cytogenomic data of an animal model useful to study human diseases. Since the platform developed for CMA that was used also allows mutation analysis for canine gene diseases, this additional technical feature permits a cost-effective and comprehensive genetic testing for diagnosis in only one step.

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