RESUMEN
Pigment-associated deafness is a common hereditary condition in a range of dog breeds. The aim of this study was to perform a genome-wide association analysis to investigate the genetic architecture of deafness in Australian Cattle Dogs. Genotypes for 104 757 polymorphisms in 216 dogs were available for analyses after quality control. A genomic relationship matrix was used in the mixed model analyses to account for polygenic effects, as we tested each polymorphism for its association with deafness, in a case/control experimental design. Three approaches were used to code the genotypes and test for additive, recessive and dominant SNP effects. The genome-wide association study analyses identified a clear association peak on CFA20, with the most significant SNPs on this chromosome (1.29 × 10-4 ) in the vicinity of MITF. Variants in MITF have been associated with white pigmentation in dogs and with deafness in humans and other species, supporting the premise that canine deafness is associated with variants in or near this gene. A recessive inheritance for the peak in CFA20 is possible given the significant results in the recessive model; however, the estimated heritability was low (4.54 × 10-5 ). Further validation, identification of variants and testing in other dog breeds are needed.
Asunto(s)
Sordera/veterinaria , Enfermedades de los Perros/genética , Perros/genética , Sitios de Carácter Cuantitativo , Animales , Australia , Cruzamiento , Sordera/genética , Femenino , Estudios de Asociación Genética/veterinaria , Genotipo , Masculino , Modelos Genéticos , Polimorfismo de Nucleótido Simple , Reino Unido , Estados UnidosRESUMEN
Genetic disease testing programmes are used in domestic animal breeds to guide selective breeding with the aim of reducing disease prevalence. We assessed the change in the prevalence of canine congenital hereditary sensorineural deafness (CHSD) in litters of Australian Cattle Dogs following the introduction of a brainstem auditory evoked response (BAER) testing programme. We studied 608 pups from 122 litters from 10 breeding kennels. Despite 10 years of testing (1998-2008), no substantial reduction in prevalence of CHSD was evident in these 10 breeding kennels. Even for the subset of litters in which both parents were BAER tested as normal hearing (305 pups from 58 litters), there was no evidence of substantial reduction in prevalence. Odds ratios for CHSD in pups for each extra year since testing in the kennel commenced were 1.01 (95% CI, 0.88-1.17) and 1.03 (95% CI, 0.82-1.30) respectively for these populations. Amongst 284 dogs from 54 litters with extended pedigrees and both parents BAER-tested normal hearing, observed prevalences of CHSD were highest in pups with no BAER-tested normal grandparents (17% or 5/29) and lowest in pups with all four grandparents tested normal (0% or 0/9). In pups for which one, two and three grandparents tested negative, prevalences of CHSD were 12% (9/74), 9% (9/101) and 8% (6/71) respectively. Hence, testing programmes based on phenotypic screening may not lead to a substantial reduction in recessive genetic disease prevalence over the medium term, even when only tested normal parents are used. Exclusive breeding of litters in which both parents and all four grandparents are BAER-tested normal is expected to reduce CHSD prevalence in pups to the greatest extent over the long term.
Asunto(s)
Enfermedades de los Perros/congénito , Enfermedades de los Perros/genética , Perros/genética , Pérdida Auditiva Sensorineural/veterinaria , Animales , Australia , Cruzamiento , Perros/clasificación , Potenciales Evocados Auditivos del Tronco Encefálico , Pérdida Auditiva Sensorineural/congénito , Modelos Logísticos , Estudios Longitudinales , Linaje , Fenotipo , Prevalencia , Estudios RetrospectivosRESUMEN
Information regarding 7 dogs and 1 cat with a spinal arachnoid cyst is presented. All patients were evaluated with survey radiographs and myelography. Computed tomography (CT) following myelography, magnetic resonance (MR) imaging, and sonography, were used in some of the patients. These imaging techniques were evaluated to determine their efficacy in diagnosing arachnoid cysts, ascertaining the extent and internal cyst architecture and detecting associated spinal cord abnormalities. Survey radiographs were nondiagnostic in all patients. Myelographically, the arachnoid cyst was visible in all patients, with partial blockage to flow of contrast medium. CT provided additional information on localization and lateralization of the cyst, and allowed measurement of the degree of spinal cord compression. MR imaging enabled identification of an associated syringomyelia. Sonography was useful for defining the cyst wall and characterizing the internal architecture of the cyst cavity and adjacent spinal cord. Measurements of the degree of spinal cord compression could be made and were similar to measurements made from CT. Additionally, sonography was considered a useful technique for orientating the surgeon to the location and extent of the cyst. In the absence of the availability of CT or MR imaging for evaluating patients with an arachnoid cyst, sonography is considered a valuable technique for directly assessing the spinal cord for associated disease. Decompressive surgery was performed on 4 dogs and 1 cat, all with successful outcomes.
Asunto(s)
Quistes Aracnoideos/veterinaria , Enfermedades de los Gatos/diagnóstico por imagen , Enfermedades de los Perros/diagnóstico por imagen , Enfermedades de la Columna Vertebral/veterinaria , Animales , Quistes Aracnoideos/diagnóstico por imagen , Gatos , Perros , Femenino , Imagen por Resonancia Magnética , Masculino , Mielografía , Enfermedades de la Columna Vertebral/diagnóstico por imagen , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
Several documented cases of human immunodeficiency virus (HIV) infection have involved unconventional or unknown modes of transmission of the virus. Some such cases have occurred within a surgical setting. We investigated the potential for transmission of HIV on suture material that had been reused following passage through an HIV-infected patient. Initial experiments were conducted in vitro using HIV. To provide stronger evidence that HIV could be transmitted via this route, further experiments were undertaken in vivo using a feline immunodeficiency virus (FIV)/cat model. Both methods indicated the possibility of transmission of virus if suture materials were reused.