Peer-reviewed veterinary case report
How a DNA test confirms color dilution hair loss in Brazilian dogs
By Caramalac, Silvana M et al.·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2021·Faculty of Veterinary Medicine and Animal Science, Brazil·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: PCR-RFLP molecular confirmation of color dilution alopecia in dogs in Brazil.
- Species:
- dog
Plain-English summary
A couple of Dachshund dogs in Brazil were found to have color dilution alopecia (CDA), a skin condition that causes hair loss in dogs with diluted coat colors. Researchers developed a simple test to identify a specific genetic mutation linked to this condition. The test showed that this mutation was present in some Dachshunds, confirming their hair loss was due to CDA. This new method can help breeders identify carriers of the mutation, allowing them to make informed decisions to prevent future cases of this skin problem.
People also search for: Dachshund hair loss treatment · color dilution alopecia in dogs · genetic testing for dog skin problems
Abstract
Color dilution alopecia (CDA) is a dermatopathy observed exclusively in animals having a diluted coat color. In dogs, color dilution occurs as a result of a single-nucleotide variation (SNV)  in the melanophilin gene. We standardized a PCR-restriction-fragment length polymorphism (PCR-RFLP) technique to identify this mutation and determine its frequency in dogs in Brazil. The standardized PCR-RFLP technique could efficiently identify the SNV  in the melanophilin gene, with mutated allele frequencies of 0.1, 0.1, and 0.0875 in Dachshund, Miniature Pinscher, and Yorkshire Terrier breeds, respectively, with no statistical difference among the breeds ( = 0.252). The mutation was identified in 2 homozygous Dachshund dogs with alopecia, confirming the clinical characteristic of CDA. The standardization of a simpler and more accessible molecular technique for recognition of the SNV  in the melanophilin gene allows identification of heterozygous (phenotypically normal) dogs that can be excluded from reproduction, to avoid the birth of dogs with diluted coat color and consequently CDA.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34088257/