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已知致病变异的犬遗传性神经疾病概述

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.

作者信息

Cocostîrc Vlad, Paștiu Anamaria Ioana, Pusta Dana Liana

机构信息

Department of Genetics and Hereditary Diseases, Faculty of Veterinary Medicine, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 400372 Cluj-Napoca, Romania.

出版信息

Animals (Basel). 2023 Nov 18;13(22):3568. doi: 10.3390/ani13223568.

Abstract

Hereditary neurological conditions documented in dogs encompass congenital, neonatal, and late-onset disorders, along with both progressive and non-progressive forms. In order to identify the causal variant of a disease, the main two approaches are genome-wide investigations and candidate gene investigation. Online Mendelian Inheritance in Animals currently lists 418 Mendelian disorders specific to dogs, of which 355 have their likely causal genetic variant identified. This review aims to summarize the current knowledge on the canine nervous system phenes and their genetic causal variant. It has been noted that the majority of these diseases have an autosomal recessive pattern of inheritance. Additionally, the dog breeds that are more prone to develop such diseases are the Golden Retriever, in which six inherited neurological disorders with a known causal variant have been documented, and the Belgian Shepherd, in which five such disorders have been documented. DNA tests can play a vital role in effectively managing and ultimately eradicating inherited diseases.

摘要

犬类中记录的遗传性神经疾病包括先天性、新生儿期和迟发性疾病,以及进行性和非进行性形式。为了确定疾病的致病变异,主要的两种方法是全基因组研究和候选基因研究。《动物在线孟德尔遗传》目前列出了418种犬类特有的孟德尔疾病,其中355种已确定其可能的致病基因变异。本综述旨在总结目前关于犬类神经系统表型及其遗传致病变异的知识。值得注意的是,这些疾病大多具有常染色体隐性遗传模式。此外,更容易患此类疾病的犬种是金毛寻回犬,其中已记录了六种具有已知致病变异的遗传性神经疾病,以及比利时牧羊犬,其中已记录了五种此类疾病。DNA检测在有效管理并最终根除遗传性疾病方面可以发挥至关重要的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/664b/10668755/6080181d0f65/animals-13-03568-g001.jpg

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