等位基因
等位基因频率
遗传学
基因分型
生物
基因型
繁殖
突变
人口
医学
基因
环境卫生
作者
Ioannis Tzouganakis,Agata Tsvetanova,Emily C. Jeanes,Cathryn S. Mellersh,David J. Gould
摘要
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.
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