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不同犬种中犬高尿酸尿症突变的估计频率。

Estimated frequency of the canine hyperuricosuria mutation in different dog breeds.

机构信息

Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.

出版信息

J Vet Intern Med. 2010 Nov-Dec;24(6):1337-42. doi: 10.1111/j.1939-1676.2010.0631.x.

Abstract

BACKGROUND

Hyperuricosuria is a condition that predisposes dogs to urate urolithiasis. A mutation that causes canine hyperuricosuria was previously identified in 3 unrelated dog breeds. The occurrence of the mutation in additional breeds was not determined.

HYPOTHESIS/OBJECTIVES: Identify additional breeds that have the hyperuricosuria mutation and estimate the mutant allele frequency in those breeds.

ANIMALS

Three thousand five hundred and thirty dogs from 127 different breeds were screened for the hyperuricosuria mutation.

METHODS

DNA samples were genotyped by pyrosequencing and allele-specific polymerase chain reaction methods.

RESULTS

Mutant allele frequencies that range from 0.001 to 0.15 were identified in the American Staffordshire Terrier, Australian Shepherd, German Shepherd Dog, Giant Schnauzer, Parson (Jack) Russell Terrier, Labrador Retriever, Large Munsterlander, Pomeranian, South African Boerboel, and Weimaraner breeds.

CONCLUSIONS AND CLINICAL IMPORTANCE

The hyperuricosuria mutation has been identified in several unrelated dog breeds. The mutant allele frequencies vary among breeds and can be used to determine an appropriate breeding plan for each breed. A DNA test is available and may be used by breeders to decrease the mutant allele frequency in breeds that carry the mutation. In addition, veterinarians may use the test as a diagnostic tool to identify the cause of urate urolithiasis.

摘要

背景

高尿酸尿症是一种使犬易患尿酸结石的病症。先前已在 3 个无关联的犬种中发现了导致犬高尿酸尿症的突变。但该突变在其他品种中的发生情况尚不清楚。

假设/目的:确定具有高尿酸尿症突变的其他品种,并估计这些品种中突变等位基因的频率。

动物

从 127 个不同品种的 3530 只犬中筛选出高尿酸尿症突变。

方法

通过焦磷酸测序和等位基因特异性聚合酶链反应方法对 DNA 样本进行基因分型。

结果

在美国斯塔福郡梗、澳大利亚牧羊犬、德国牧羊犬、巨型雪纳瑞犬、帕森梗(杰克罗素梗)、拉布拉多寻回犬、大型明斯特兰德犬、博美犬、南非獒犬和魏玛猎犬品种中发现了突变等位基因频率在 0.001 至 0.15 之间的个体。

结论和临床意义

高尿酸尿症突变已在几个无关联的犬种中被发现。突变等位基因频率在品种间存在差异,可用于为每个品种制定适当的繁殖计划。目前已有一种 DNA 测试可供使用,繁殖者可以用它来降低携带该突变的品种中的突变等位基因频率。此外,兽医可以将该测试用作诊断工具,以确定尿酸结石形成的原因。

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