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本文引用的文献

1
ADAMTS17 mutation associated with primary lens luxation is widespread among breeds.与原发性晶状体脱位相关的ADAMTS17突变在多个品种中广泛存在。
Vet Ophthalmol. 2011 Nov;14(6):378-84. doi: 10.1111/j.1463-5224.2011.00892.x. Epub 2011 Aug 3.
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Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation.患有RPGRIP1突变纯合子的远交系迷你长毛腊肠犬的眼科和视锥细胞衍生电诊断结果。
Vet Ophthalmol. 2011 May;14(3):146-52. doi: 10.1111/j.1463-5224.2010.00848.x.
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Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs.犬环氧化酶-2(Cox-2)启动子中的新型等位基因变异与犬肾发育不良有关。
PLoS One. 2011 Feb 8;6(2):e16684. doi: 10.1371/journal.pone.0016684.
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Estimated frequency of the canine hyperuricosuria mutation in different dog breeds.不同犬种中犬高尿酸尿症突变的估计频率。
J Vet Intern Med. 2010 Nov-Dec;24(6):1337-42. doi: 10.1111/j.1939-1676.2010.0631.x.
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A map of human genome variation from population-scale sequencing.人类基因组变异的图谱来自于基于人群的测序。
Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.
6
An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.犬原发性晶状体脱位的 ADAMTS17 剪接受体位点突变。
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4716-21. doi: 10.1167/iovs.09-5142. Epub 2010 Apr 7.
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Localization of canine brachycephaly using an across breed mapping approach.使用跨品种图谱定位犬类短头畸形。
PLoS One. 2010 Mar 10;5(3):e9632. doi: 10.1371/journal.pone.0009632.
8
Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.全基因组关联作图鉴定出多个犬类系统性红斑狼疮相关疾病复合性状的位点。
Nat Genet. 2010 Mar;42(3):250-4. doi: 10.1038/ng.525. Epub 2010 Jan 31.
9
Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.患有RPGRIP1突变的犬视网膜锥杆营养不良的表型变异和基因型-表型不一致性。
Mol Vis. 2009 Nov 11;15:2287-305.
10
Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd.HSF4基因的突变与澳大利亚牧羊犬的遗传性白内障有关。
Vet Ophthalmol. 2009 Nov-Dec;12(6):372-8. doi: 10.1111/j.1463-5224.2009.00735.x.

DNA 检测与家犬。

DNA testing and domestic dogs.

机构信息

Canine Genetics, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK.

出版信息

Mamm Genome. 2012 Feb;23(1-2):109-23. doi: 10.1007/s00335-011-9365-z. Epub 2011 Nov 10.

DOI:10.1007/s00335-011-9365-z
PMID:22071879
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3275738/
Abstract

There are currently about 80 different DNA tests available for mutations that are associated with inherited disease in the domestic dog, and as the tools available with which to dissect the canine genome become increasingly sophisticated, this number can be expected to rise dramatically over the next few years. With unrelenting media pressure focused firmly on the health of the purebred domestic dog, veterinarians and dog breeders are turning increasingly to DNA tests to ensure the health of their dogs. It is ultimately the responsibility of the scientists who identify disease-associated genetic variants to make sensible choices about which discoveries are appropriate to develop into commercially available DNA tests for the lay dog breeder, who needs to balance the need to improve the genetic health of their breed with the need to maintain genetic diversity. This review discusses some of the factors that should be considered along the route from mutation discovery to DNA test and some representative examples of DNA tests currently available.

摘要

目前,大约有 80 种不同的 DNA 测试可用于检测与犬类遗传性疾病相关的突变,随着用于分析犬基因组的工具变得越来越复杂,预计在未来几年内,这个数字将大幅增加。由于媒体毫不留情地将焦点牢牢地集中在纯种犬的健康上,兽医和犬类饲养者越来越倾向于使用 DNA 测试来确保他们的犬只健康。最终,确定与疾病相关的遗传变异的科学家需要做出明智的选择,决定哪些发现适合开发成可供非专业犬类饲养者使用的商业 DNA 测试,因为这些饲养者需要在提高犬种的遗传健康和保持遗传多样性之间取得平衡。这篇综述讨论了从突变发现到 DNA 测试的过程中需要考虑的一些因素,以及目前可用的一些代表性 DNA 测试的例子。