New test content available in MyDogDNA/Optimal Selection reports: Amelogenesis Imperfecta (AI) in Parson Russell Terriers

Research performed in Professor Hannes Lohi’s canine genetics research laboratory at the University of Helsinki and Folkhälsan Institute of Genetics, Helsinki, Finland has led to the discovery of a genetic mutation responsible for Amelogenesis Imperfecta (AI) in Parson Russell Terriers. The work was funded in part by Wisdom Health and Genoscoper Laboratories, providers of the MyDogDNA™ (Europe) / Optimal Selection™ (United States) test.

Amelogenesis Imperfecta (AI) or enamel hypoplasia is a congenital disorder characterised by defects in enamel formation. Enamel is a hard, smooth substance that covers the crown of the tooth providing protection to the underlying dentine. Normal enamel functions to strengthen the teeth, seal the teeth from bacteria, and prevent plaque from accumulating on the surface of the teeth. Enamel formation starts before the eruption of the first teeth and there will be no subsequent repair of the enamel after eruption. The clinical signs of amelogenesis imperfecta include enamel thinning and roughening and discoloration of the teeth. The enamel of affected teeth erodes more rapidly over the years than normal enamel.

As part of the study leading to the research discovery, almost 400 Parson Russell Terriers were screened indicating a recessive mode of inheritance. The breed carrier frequency was 9 % for the discovered mutation. The detailed results of the study are published in a peer-reviewed scientific article that can be found here.

This gene discovery has enabled the development of a genetic test for Amelogenesis Imperfecta in Parson Russell Terriers to allow management of the condition in breeding programs, so that healthy carrier dogs can be kept in the gene pool while avoiding affected offspring.

For Parson Russell Terriers, the MyDogDNA™/Optimal Selection™ screening includes not only the novel Amelogenesis Imperfecta (AI) test, but also testing for Degenerative Myelopathy (DM), Hyperuricosuria (HUU), Primary Lens Luxation (PLL), Spinocerebellar Ataxia with Myokymia and/or Seizures (SCA), Spinocerebellar Ataxia/ Late-Onset Ataxia (LOA), Juvenile encephalopathy; mutation originally found in Parson Russell Terrier and Autosomal Recessive Severe Combined Immunodeficiency (ARSCID). Additional test results for inherited traits (e.g., coat color, coat type and body size) and genetic diversity level are also included.

For ordering tests and to learn more about genetic testing of your dog breed of interest, please visit: (Europe) or (United States).