Sara Ghilardi, Mara Bagardi, Stefano Frattini, Giulia E Barbariga, Paola G Brambilla, Giulietta Minozzi, Michele Polli
{"title":"意大利犬进行性视网膜萎缩相关的进行性杆状锥体变性和其他主要变异的基因型和等位基因频率","authors":"Sara Ghilardi, Mara Bagardi, Stefano Frattini, Giulia E Barbariga, Paola G Brambilla, Giulietta Minozzi, Michele Polli","doi":"10.1002/vro2.77","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Progressive retinal atrophy (PRA) is a group of canine inherited retinal disorders affecting up to 100 breeds. Genetic tests are available. The aim of this study was to retrospectively evaluate the genetic variants associated with PRA among dogs residing in Italy.</p><p><strong>Methods: </strong>Genetic data of 20 variants associated with different forms of PRA were collected through DNA tests over a 10-year period for several dog breeds in the Italian canine population. Allelic and genotypic frequencies were calculated.</p><p><strong>Results: </strong>A total of 1467 DNA tests were conducted for 1180 dogs. Progressive rod-cone degeneration (PRCD) was the most tested form of PRA, with 58.15% (<i>n</i> = 853) of the DNA tests. Among the widespread breeds in Italy, Labrador retrievers and toy poodles showed a prevalence of heterozygous carriers higher than 15%. Among the others, 175 DNA tests for golden retrievers (GR) showed a prevalence of heterozygous carriers of 13.04% (<i>n</i> = 12) for GR-PRA1 and 8.43% (<i>n</i> = 7) for GR-PRA2. The zwergschnauzer breed was tested for the type B and/or the type B1 forms of PRA with 25.32% (<i>n</i> = 20) heterozygous carriers and 0%, respectively.</p><p><strong>Conclusion: </strong>The study offers an overview of the prevalence of PRCD and other PRA forms within some of the most popular breeds in Italy.</p>","PeriodicalId":23565,"journal":{"name":"Veterinary Record Open","volume":"10 2","pages":"e77"},"PeriodicalIF":1.3000,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665785/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.\",\"authors\":\"Sara Ghilardi, Mara Bagardi, Stefano Frattini, Giulia E Barbariga, Paola G Brambilla, Giulietta Minozzi, Michele Polli\",\"doi\":\"10.1002/vro2.77\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Progressive retinal atrophy (PRA) is a group of canine inherited retinal disorders affecting up to 100 breeds. Genetic tests are available. The aim of this study was to retrospectively evaluate the genetic variants associated with PRA among dogs residing in Italy.</p><p><strong>Methods: </strong>Genetic data of 20 variants associated with different forms of PRA were collected through DNA tests over a 10-year period for several dog breeds in the Italian canine population. Allelic and genotypic frequencies were calculated.</p><p><strong>Results: </strong>A total of 1467 DNA tests were conducted for 1180 dogs. Progressive rod-cone degeneration (PRCD) was the most tested form of PRA, with 58.15% (<i>n</i> = 853) of the DNA tests. Among the widespread breeds in Italy, Labrador retrievers and toy poodles showed a prevalence of heterozygous carriers higher than 15%. Among the others, 175 DNA tests for golden retrievers (GR) showed a prevalence of heterozygous carriers of 13.04% (<i>n</i> = 12) for GR-PRA1 and 8.43% (<i>n</i> = 7) for GR-PRA2. The zwergschnauzer breed was tested for the type B and/or the type B1 forms of PRA with 25.32% (<i>n</i> = 20) heterozygous carriers and 0%, respectively.</p><p><strong>Conclusion: </strong>The study offers an overview of the prevalence of PRCD and other PRA forms within some of the most popular breeds in Italy.</p>\",\"PeriodicalId\":23565,\"journal\":{\"name\":\"Veterinary Record Open\",\"volume\":\"10 2\",\"pages\":\"e77\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-11-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665785/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Veterinary Record Open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1002/vro2.77\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/12/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"VETERINARY SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Veterinary Record Open","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/vro2.77","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/12/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"VETERINARY SCIENCES","Score":null,"Total":0}
Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.
Background: Progressive retinal atrophy (PRA) is a group of canine inherited retinal disorders affecting up to 100 breeds. Genetic tests are available. The aim of this study was to retrospectively evaluate the genetic variants associated with PRA among dogs residing in Italy.
Methods: Genetic data of 20 variants associated with different forms of PRA were collected through DNA tests over a 10-year period for several dog breeds in the Italian canine population. Allelic and genotypic frequencies were calculated.
Results: A total of 1467 DNA tests were conducted for 1180 dogs. Progressive rod-cone degeneration (PRCD) was the most tested form of PRA, with 58.15% (n = 853) of the DNA tests. Among the widespread breeds in Italy, Labrador retrievers and toy poodles showed a prevalence of heterozygous carriers higher than 15%. Among the others, 175 DNA tests for golden retrievers (GR) showed a prevalence of heterozygous carriers of 13.04% (n = 12) for GR-PRA1 and 8.43% (n = 7) for GR-PRA2. The zwergschnauzer breed was tested for the type B and/or the type B1 forms of PRA with 25.32% (n = 20) heterozygous carriers and 0%, respectively.
Conclusion: The study offers an overview of the prevalence of PRCD and other PRA forms within some of the most popular breeds in Italy.
期刊介绍：
Veterinary Record Open is a journal dedicated to publishing specialist veterinary research across a range of topic areas including those of a more niche and specialist nature to that considered in the weekly Vet Record. Research from all disciplines of veterinary interest will be considered. It is an Open Access journal of the British Veterinary Association.
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