Exclusion of eleven candidate genes for ocular melanosis in Cairn terriers.

Journal of negative results in biomedicine Pub Date : 2013-03-01 DOI:10.1186/1477-5751-12-6

Paige A Winkler, Joshua T Bartoe, Celeste R Quinones, Patrick J Venta, Simon M Petersen-Jones

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引用次数: 10

Abstract

Background: Ocular melanosis of Cairn terrier dogs is an inherited defect characterized by progressive pigmentation of both eyes which can result in glaucoma and blindness. Pedigree analysis suggests the trait has an autosomal dominant mode of inheritance. We selected 11 potential candidate genes and used an exclusion analysis approach to investigate the likelihood that one of the candidate gene loci contained the Cairn terrier-ocular melanosis locus.

Results: Two polymorphic loci were identified within or close to each candidate gene. Genotyping of at least 10 ocular melanosis Cairn terriers for each marker showed that there was no single shared allele for either of the two polymorphic markers identified in ASIP, COMT, GPNMB, GSK3B, LYST, MC1R, MITF, SILV, TYR, TYRP1,and TYRP2. This is strong evidence to exclude each locus as the site of the ocular melanosis mutation (probability of a false exclusion calculated for each gene ranged from 1.59 × 10-4 to 1 × 10-9).

Conclusions: None of the 11 potential candidate genes selected are likely to be the gene locus for ocular melanosis in Cairn terriers.

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排除凯恩犬眼部黑色素病的11个候选基因。

背景:凯恩梗犬的眼部黑色素病是一种遗传性缺陷，其特征是双眼进行性色素沉着，可导致青光眼和失明。系谱分析表明该性状具有常染色体显性遗传模式。我们选择了11个潜在的候选基因，并使用排除分析方法来研究其中一个候选基因位点包含凯恩梗-眼黑色素瘤位点的可能性。结果:在每个候选基因内部或附近鉴定出两个多态性位点。对至少10只眼黑症的Cairn梗犬进行基因分型后发现，在ASIP、COMT、GPNMB、GSK3B、LYST、MC1R、MITF、SILV、TYR、TYRP1和TYRP2中鉴定出的两种多态标记均不存在单一的共享等位基因。这是排除每个基因座作为眼部黑变突变位点的有力证据(计算每个基因的错误排除概率从1.59 × 10-4到1 × 10-9不等)。结论:所选的11个潜在候选基因中没有一个可能是凯恩犬眼部黑色素瘤的基因位点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of negative results in biomedicine

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