Davies Veterinary Specialists, Higham Gobion, UK.
Department of Clinical Science and Services, Ophthalmology Service, The Royal Veterinary College, University of London, London, UK.
Vet Ophthalmol. 2022 Jan;25(1):85-89. doi: 10.1111/vop.12960. Epub 2021 Dec 6.
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.
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.
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).
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.
在英国的葡萄牙 Podengo 种群中建立 PLL 引起的 G>A 内含子 10 ADAMTS17 突变的等位基因频率，并研究该突变与矮小身材之间的可能相关性。
为了进行本研究，招募了两组狗（第 1 组和第 2 组）。第 1 组（n=40）仅由接受基因分型的狗组成，第 2 组（n=42）由接受基因分型、全面眼科检查和肩高测量的狗组成。
在第 1 组中，对 ADAMTS17:c.1473+1G>A 突变的基因分型证实，40 只狗中有 1/40 只纯合突变等位基因（-/-），7/40 只为杂合突变等位基因（+/−），32/40 只纯合野生型等位基因（+/+）狗。在第 2 组中，对狗的基因分型证实，6/42 只狗为杂合突变等位基因（+/−）和野生型等位基因纯合（+/+）。总共，有 1/82（1.2%）只狗被证实为突变等位基因纯合，13/82（15.8%）只狗为突变等位基因杂合，68/82（83%）只狗为野生型等位基因纯合。两组的突变等位基因频率计算为 0.09。未发现突变与矮小身材之间存在统计学显著相关性（p=0.590）。
本研究计算的突变频率（0.09）较高。在繁殖前，应考虑对每只狗进行遗传测试，以进行选择性繁殖。
