犬孟德尔遗传疾病的诊断:简要文献综述

Vlad Cocostîrc, D. Pusta
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引用次数: 0

摘要

遗传疾病的基因组研究对于开发用于识别携带基因突变的狗的特定诊断标记具有重要意义。在线动物孟德尔遗传数据库显示,狗有324种孟德尔疾病,其中247种可能的致病基因变异已被确定。其余的疾病是未来狗和人类遗传学研究的候选者,因为它可能导致两个物种的致病基因组变异的描述。本文旨在简要介绍目前用于狗遗传学研究的技术。选择适当的技术是至关重要的,因为它可能根据多种变量而有所不同,例如传播方式、所研究的个人人数以及现有信息的质量和数量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnosis of Mendelian Inherited Disorders in Dogs: Brief Literature Review
Genomic research of hereditary diseases is highly significant in the development of specific diagnostic markers meant to identify dogs carrying gene mutations. The Online Mendelian Inheritance in Animals database shows that there are 324 Mendelian disorders in dogs, of which 247 have their likely causal gene variation identified. The remaining disorders are candidates for future research in dog and human genetics, as it may lead to the description of the causative genomic variants in both species. This paper aims to briefly describe the techniques currently used in the research of dog genetics. Choosing the proper technique is fundamental, as it may differ in accordance to multiple variables such as transmission pattern, number of individuals taken into study and the quality and quantity of the existing information.
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