{"title":"犬孟德尔遗传疾病的诊断:简要文献综述","authors":"Vlad Cocostîrc, D. Pusta","doi":"10.15835/buasvmcn-vm:2019.0031","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":9470,"journal":{"name":"Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca. Veterinary Medicine","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diagnosis of Mendelian Inherited Disorders in Dogs: Brief Literature Review\",\"authors\":\"Vlad Cocostîrc, D. Pusta\",\"doi\":\"10.15835/buasvmcn-vm:2019.0031\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":9470,\"journal\":{\"name\":\"Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca. Veterinary Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-06-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca. Veterinary Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15835/buasvmcn-vm:2019.0031\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bulletin of University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca. Veterinary Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15835/buasvmcn-vm:2019.0031","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.