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首页> 外文期刊>The veterinary clinics of North America: small animal practice >Changing Paradigms in Diagnosis of Inherited Defects Associated with Urolithiasis
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Changing Paradigms in Diagnosis of Inherited Defects Associated with Urolithiasis

机译:在诊断与尿石症相关的遗传缺陷中改变范例

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摘要

The way in which veterinary scientists think about and approach the study of genetic disease has not changed, but the tools available to veterinary scientists have and will continue to change, allowing us to study increasingly complex problems and tomake more rapid advances in the context of simple problems. To put these advances in perspective, this article first gives a historical perspective on the approaches to studying genetic diseases, particularly in human beings, and then outlines the advances that have become possible with the availability of the dog genome sequence. The article then discusses two inherited defects that are associated with urolithiasis, in particular, those responsible for cystine and purine (uric acid and its salts) stone formation. Together, these two conditions illustrate the contemporary use of a broad range of genetic approaches.
机译:兽医科学家思考和进行遗传疾病研究的方式没有改变,但是兽医科学家可以使用的工具已经并且将继续改变,这使我们能够研究日益复杂的问题并在简单的背景下取得更快的进步。问题。为了对这些进展进行透视,本文首先对研究遗传疾病(特别是在人类中)的方法提供了历史观点,然后概述了由于狗基因组序列的可用性而可能实现的进展。然后,本文讨论了与尿石症有关的两个遗传缺陷,特别是那些导致胱氨酸和嘌呤(尿酸及其盐)结石形成的缺陷。这两个条件共同说明了现代遗传方法的广泛应用。

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