Literature DB >> 30661469

Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing.

Christina J Ramirez1, Melissa Krug1, Adam Zahand1, Kyle Sundin1, Lisa G Shaffer1, Blake C Ballif1.   

Abstract

Canine inherited factor VII deficiency is a mild-to-moderate, inherited coagulopathy that affects several breeds of dog. We identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles by causing allele dropout of the normal, wild-type allele. In the absence of an external proficiency program among veterinary genetic testing laboratories, implementation of an internal proficiency program, which requires 2 independent methods for genotyping dogs at any given locus, was further enhanced by ensuring minimally non-overlapping primer pairs between the 2 assays. After redesign of our clinical tests, all dogs were re-examined, and the correct genotypes were identified. These changes ensure higher accuracy in future testing of the F7 mutation.

Entities:  

Keywords:  Dogs; factor VII deficiency; genetic testing; laboratory proficiency testing

Mesh:

Substances:

Year:  2019        PMID: 30661469      PMCID: PMC6838828          DOI: 10.1177/1040638718825281

Source DB:  PubMed          Journal:  J Vet Diagn Invest        ISSN: 1040-6387            Impact factor:   1.279


  13 in total

1.  dbSNP: the NCBI database of genetic variation.

Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

2.  A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.

Authors:  Heng Li
Journal:  Bioinformatics       Date:  2011-09-08       Impact factor: 6.937

3.  Factor VII deficiency in an Alaskan malamute.

Authors:  J N Mills; R H Labuc; M J Lawley
Journal:  Aust Vet J       Date:  1997-05       Impact factor: 1.281

4.  Hereditary factor-VII deficiency in the beagle.

Authors:  N W Spurling; L K Burton; R Peacock; T Pilling
Journal:  Br J Haematol       Date:  1972-07       Impact factor: 6.998

5.  Persistent uterine and vaginal hemorrhage in a beagle with factor VII deficiency.

Authors:  S L Wheeler; K W Weingand; M A Thrall; R J Berg; P D Schwarz; P N Olson
Journal:  J Am Vet Med Assoc       Date:  1984-08-15       Impact factor: 1.936

6.  A novel missense mutation responsible for factor VII deficiency in research Beagle colonies.

Authors:  M B Callan; M N Aljamali; P Margaritis; M E Griot-Wenk; E S Pollak; P Werner; U Giger; K A High
Journal:  J Thromb Haemost       Date:  2006-09-08       Impact factor: 5.824

7.  Factor VII deficiency in a mixed breed dog.

Authors:  R Macpherson; J Scherer; M L Ross; P A Gentry
Journal:  Can Vet J       Date:  1999-07       Impact factor: 1.008

8.  Hereditary factor VII deficiency in the Alaskan Klee Kai dog.

Authors:  Jennifer A Kaae; Mary Beth Callan; Marjory B Brooks
Journal:  J Vet Intern Med       Date:  2007 Sep-Oct       Impact factor: 3.333

9.  The EMBL Nucleotide Sequence Database.

Authors:  Carola Kanz; Philippe Aldebert; Nicola Althorpe; Wendy Baker; Alastair Baldwin; Kirsty Bates; Paul Browne; Alexandra van den Broek; Matias Castro; Guy Cochrane; Karyn Duggan; Ruth Eberhardt; Nadeem Faruque; John Gamble; Federico Garcia Diez; Nicola Harte; Tamara Kulikova; Quan Lin; Vincent Lombard; Rodrigo Lopez; Renato Mancuso; Michelle McHale; Francesco Nardone; Ville Silventoinen; Siamak Sobhany; Peter Stoehr; Mary Ann Tuli; Katerina Tzouvara; Robert Vaughan; Dan Wu; Weimin Zhu; Rolf Apweiler
Journal:  Nucleic Acids Res       Date:  2005-01-01       Impact factor: 16.971

10.  Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.

Authors:  Jonas Donner; Maria Kaukonen; Heidi Anderson; Fredrik Möller; Kaisa Kyöstilä; Satu Sankari; Marjo Hytönen; Urs Giger; Hannes Lohi
Journal:  PLoS One       Date:  2016-08-15       Impact factor: 3.240

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  1 in total

1.  Investigation of a common canine factor VII deficiency variant in dogs with unexplained bleeding on autopsy.

Authors:  Jessica A Clark; Stephen B Hooser; Dayna L Dreger; Grant N Burcham; Kari J Ekenstedt
Journal:  J Vet Diagn Invest       Date:  2022-08-10       Impact factor: 1.569

  1 in total

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