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基因检测:猫的实用注意事项

Genetic Testing: practical dos and don'ts for cats.

作者信息

Lyons Leslie A

机构信息

Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.

出版信息

J Feline Med Surg. 2024 Dec;26(12):1098612X241303603. doi: 10.1177/1098612X241303603.

Abstract

PRACTICAL RELEVANCE

A significant number of genetic variants are known for domestic cats and their breeds. Several DNA variants are causal for inherited diseases and most of the variants for phenotypic traits have been discovered. Genetic testing for these variants can support breeding decisions for both health and aesthetics. Genetic testing can also be used to monitor for the health of, or provide targeted therapy for, an individual cat and, more widely, can progress scientific discovery. Technological improvements have led to the development of large panel genetic testing, which can provide many DNA results for a low cost.

CLINICAL CHALLENGES

With the development of large panel genetic testing has come companies that can carry out this service, but which company is best to use may not always be clear - more tests are not necessarily better. Usage and interpretation of genetic data and how the results are presented by commercial laboratories may also be confusing for veterinary practitioners and owners, leading to misinterpretations for healthcare, improper genetic counseling, and poor breed and population management.

EVIDENCE BASE

The information provided in this review draws on scientific articles reporting the discovery, and discussing the meaning and implications, of DNA variants, as well as information from the Online Mendelian Inheritance in Animals (OMIA) website, which documents all the DNA variant discoveries. The author also provides suggestions and recommendations based on her personal experience and expertise in feline genetics.

AUDIENCE

This review is aimed at general practitioners and discusses the genetic tests that can be performed, what to consider when choosing a testing laboratory and provides genetic testing counseling advice. Practitioners with a high proportion of cat breeder clientele will especially benefit from this review and all veterinarians should realize that genetic testing and genomic medicine should be part of diagnostic plans and healthcare for their cat clients.

摘要

实际意义

家猫及其品种已知有大量基因变异。一些DNA变异是遗传性疾病的病因,并且大多数表型性状的变异已被发现。对这些变异进行基因检测可为健康和美观方面的育种决策提供支持。基因检测还可用于监测个体猫的健康状况或为其提供靶向治疗,更广泛地说,可推动科学发现。技术进步已促成了大型基因检测面板的开发,这种检测面板能够以低成本提供多种DNA检测结果。

临床挑战

随着大型基因检测面板的发展,出现了能够开展这项服务的公司,但哪家公司最适合使用并不总是明确的——检测项目多不一定就更好。基因数据的使用和解读以及商业实验室呈现检测结果的方式,对兽医从业者和猫主人来说也可能造成困扰,从而导致对医疗保健的误解、不恰当的遗传咨询以及不良的品种和种群管理。

证据基础

本综述提供的信息借鉴了报道DNA变异的发现、讨论其意义和影响的科学文章,以及来自动物在线孟德尔遗传(OMIA)网站的信息,该网站记录了所有已发现的DNA变异。作者还基于她在猫遗传学方面的个人经验和专业知识提供了建议和推荐。

受众群体

本综述针对全科医生,讨论了可以进行的基因检测、选择检测实验室时应考虑的因素,并提供了基因检测咨询建议。拥有高比例养猫繁育客户的从业者将尤其从本综述中受益,所有兽医都应认识到基因检测和基因组医学应成为其猫科动物客户诊断计划和医疗保健的一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4488/11626677/84ad22dcb8b8/10.1177_1098612X241303603-img2.jpg

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