Investigation of the allele frequency of the G>A intron 10 ADAMTS17 mutation causing primary lens luxation in the Portuguese Podengo breed
2022
Tzouganakis, Ioannis | Tsvetanova, Agata | Jeanes, Emily C. | Mellersh, Cathryn S. | Gould, David J.
OBJECTIVE: To establish the allele frequency of the PLL‐causing G>A intron 10 ADAMTS17 mutation in the Portuguese Podengo population in the UK and investigate a possible correlation between the mutation and short stature. METHODS: Two groups of dogs (Group 1 and Group 2) were recruited for the purpose of the study. Group 1 (n = 40) consisted of dogs which were genotyped only and Group 2 (n = 42) consisted of dogs which were genotyped, underwent a full ophthalmological examination and also had their height measured at the withers. RESULTS: In Group 1, genotyping for the ADAMTS17:c.1473+1G>A mutation confirmed 1/40 homozygous for the mutated allele (−/−), 7/40 heterozygous for the mutated allele (+/−), and 32/40 homozygous for the wild‐type allele (+/+) dogs. In Group 2, genotyping of the dogs confirmed 6/42 heterozygous for the mutated allele (+/−) and homozygous for the wild‐type allele (+/+) dogs. In total, 1/82 (1.2%) dogs were confirmed to be homozygous for the mutated allele, 13/82 (15.8%) heterozygous for the mutated allele and 68/82 (83%) homozygous for the wild‐type allele. The frequency of the mutated allele across both groups was calculated as 0.09. A statistically significant correlation between the mutation and short stature could not be established (p = .590). CONCLUSIONS: The frequency of the mutation calculated in this study (0.09) is high. Genetic testing should be considered for each dog prior to breeding with a view of selective breeding.
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