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Identification of aneuploidy in dogs screened by a SNP microarray
Human Genetics ( IF 5.3 ) Pub Date : 2021-07-21 , DOI: 10.1007/s00439-021-02318-8
Lisa G Shaffer 1, 2 , Bradley Hopp 1 , Marek Switonski 3 , Adam Zahand 1 , Blake C Ballif 1
Affiliation  

Microarray analysis is an efficient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a powerful way to identify copy-number gains and losses representing aneuploidy and aneusomy, but moreover, allow for the direct assessment of individual genotypes in known disease loci. Using these approaches, trisomies, monosomies, and mosaicism of whole chromosomes have been identified in human microarray studies. For canines, this approach is not widely used in clinical laboratory diagnostic practice. In our laboratory, we have implemented the use of a proprietary SNP array that represents approximately 650,000 loci across the domestic dog genome. During the validation of this microarray prior to clinical use, we identified three cases of aneuploidy after screening 2053 dogs of various breeds including monosomy X, trisomy X, and an apparent mosaic trisomy of canine chromosome 38 (CFA38). This study represents the first use of microarrays for copy-number evaluation to identify cytogenetic anomalies in canines. As microarray analysis becomes more routine in canine genetic testing, more cases of chromosome aneuploidy are likely to be uncovered.



中文翻译:

通过 SNP 微阵列筛选的狗的非整倍性鉴定

微阵列分析是筛选和识别人类细胞遗传失衡的有效方法。特别是,SNP 阵列是识别代表非整倍性和异体性的拷贝数增加和损失的有效方法,而且还允许直接评估已知疾病位点中的单个基因型。使用这些方法,已经在人类微阵列研究中鉴定了整个染色体的三体性、单体性和嵌合性。对于犬科动物,这种方法并未广泛用于临床实验室诊断实践。在我们的实验室中,我们实施了专有 SNP 阵列的使用,该阵列代表了家犬基因组中大约 650,000 个基因座。在临床使用前对该微阵列进行验证期间,在筛选了 2053 只不同品种的狗后,我们确定了三例非整倍体,包括 X 单体、X 三体和犬 38 号染色体(CFA38)的明显镶嵌三体。这项研究首次使用微阵列进行拷贝数评估,以识别犬科动物的细胞遗传学异常。随着微阵列分析在犬类基因检测中变得越来越常规,可能会发现更多的染色体非整倍性病例。

更新日期:2021-07-22
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