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Real-time PCR genotyping assay for canine trapped neutrophil syndrome and high frequency of the mutant allele in Border collies
Authors:Keijiro Mizukami  Akira Yabuki  Takuji Kawamichi  Hye-Sook Chang  Mohammad M. Rahman  Mohammad M. Uddin  Moeko Kohyama  Osamu Yamato
Affiliation:1. Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima, Kagoshima 890-0065, Japan;2. Japan Border Collie Health Network, 1-14-8 Manabigaoka, Tarumi-ku, Kobe, Hyogo 655-0004, Japan;1. Department of Medicine, Section of Infectious Diseases, Centro de Educación Médica e Investigaciones Clínicas ‘Norberto Quirno’, Av. Las Heras 2981, 2nd Floor, Office 3, Capital Federal C1425ASG, Buenos Aires, Argentina;2. Theravance, Inc., 901 Gateway Boulevard, South San Francisco, CA 94080, USA;3. Section of Infectious Diseases, Faculty of Medicine, University of Manitoba, 501 Basic Medical Sciences Building, 543–730 William Avenue, Winnipeg, MB R3E 0W3, Canada;4. WellStar Infectious Disease, 55 Whitcher Street, Suite 220, Marietta, GA 30060, USA;5. Hospital Central ‘Dr Ignacio Morones Prieto’, Av. Venustiano Carranza 2395, San Luis Potosi 78240, Mexico;6. Hospital de Clínicas, Universidad de Buenos Aires, Av. Córdoba 2351, Buenos Aires C1120AAR, Argentina;7. Winthrop-University Hospital, 259 First Street, Mineola, NY 11501, USA;8. State University of New York at Stony Brook, Stony Brook, NY 11794, USA;9. Division of Pulmonary Medicine, Clinic Institute of Thorax, Hospital Clinic of Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, CIBER de Enfermedades Respiratorias, Carrer de Villarroel 170, Barcelona 08036, Spain;10. Duke Clinical Research Institute, and Division of Infectious Diseases, Duke University Medical Center, 2400 Pratt Street, Durham, NC 27705, USA;1. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA;2. Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55905, USA;3. Department of Biochemistry, Vanderbilt University Medical Center, Nashville, TN 37232, USA;4. Biological Sciences Division and Environmental Molecular Sciences Laboratory, Pacific Northwest National Laboratory, Richland, WA 99354, USA;5. Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37232, USA;6. Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232, USA;1. Department of Electrical, Systems and Automatic Engineering, University of Leon, Spain;2. Johann Bernoulli Institute for Mathematics and Computer Science, University of Groningen, The Netherlands;3. Department of Mechanical, Computing and Aerospace Engineering, University of Leon, Spain
Abstract:Trapped neutrophil syndrome is an autosomal recessive inherited neutropenia in Border collies. The causative mutation is a 4 base pair deletion in exon 19 of the canine VPS13B gene. In this study, a real-time PCR assay was developed and a genotyping survey was carried out in Border collies in Japan. The carrier frequency was 11.1%, suggesting that the mutant allele frequency is high enough to warrant measures to control and prevent the disease.
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