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单基因遗传性皮肤病的遗传与相关犬种

Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

作者信息

Marín-García Pablo Jesús, Llobat Lola

机构信息

Department of Animal Production and Health, Veterinary Public Health and Food Sciences and Technology (PASAPTA), Facultad de Veterinaria, Universidad Cardenal Herrera-CEU, CEU Universities, 46113 Valencia, Spain.

出版信息

Vet Sci. 2022 Aug 15;9(8):433. doi: 10.3390/vetsci9080433.

DOI:10.3390/vetsci9080433
PMID:36006348
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9412528/
Abstract

The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation. Genetic changes, or mutations, that give rise to a pathology in most cases result from recessive alleles that are normally found with minority allelic frequency. The use of genetic improvement increases the consanguinity within canine breeds and, on many occasions, also increases the frequency of these recessive alleles, increasing the prevalence of these pathologies. This prevalence has been known for a long time, but mutations differ according to the canine breed. These genetic diseases, including skin diseases, or genodermatosis, which is narrowly defined as monogenic hereditary dermatosis. In this review, we focus on genodermatosis , i.e., monogenic, and hereditary dermatosis, in addition to the clinical features, diagnosis, pathogeny, and treatment. Specifically, this review analyzes epidermolytic and non-epidermolytic ichthyosis, junctional epidermolysis bullosa, nasal parakeratosis, mucinosis, dermoid sinus, among others, in canine breeds, such as Golden Retriever, German Pointer, Australian Shepherd, American Bulldog, Great Dane, Jack Russell Terrier, Labrador Retriever, Shar-Pei, and Rhodesian Ridgeback.

摘要

基因组的可塑性是包括犬类在内的所有动物物种的一个进化因素,但它也可能是遗传性基因突变所引发疾病的根源。在大多数情况下,导致病变的基因变化或突变是由通常以少数等位基因频率存在的隐性等位基因引起的。基因改良的应用增加了犬种内部的近亲繁殖程度,而且在很多情况下,还提高了这些隐性等位基因的频率,从而增加了这些病变的患病率。这种患病率早已为人所知,但不同犬种的突变情况有所不同。这些遗传性疾病包括皮肤病,或基因性皮肤病,狭义上被定义为单基因遗传性皮肤病。在本综述中,除了临床特征、诊断、病因和治疗方法外,我们重点关注基因性皮肤病,即单基因遗传性皮肤病。具体而言,本综述分析了金毛寻回犬、德国短毛指示犬、澳大利亚牧羊犬、美国斗牛犬、大丹犬、杰克罗素梗、拉布拉多寻回犬、沙皮犬和罗德西亚脊背犬等犬种中的表皮松解性和非表皮松解性鱼鳞病、交界性大疱性表皮松解症、鼻角化不全、黏蛋白沉积症、皮样窦等疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/276f/9412528/9574dd5eb094/vetsci-09-00433-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/276f/9412528/4efcd6b9cc47/vetsci-09-00433-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/276f/9412528/9574dd5eb094/vetsci-09-00433-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/276f/9412528/4efcd6b9cc47/vetsci-09-00433-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/276f/9412528/9574dd5eb094/vetsci-09-00433-g002.jpg

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ABHD5 frameshift deletion in Golden Retrievers with ichthyosis.ABHD5 框移缺失与金毛寻回猎犬的鱼鳞癣。
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