Sloughi犬的全身性进行性视网膜萎缩是由于PDE6B基因外显子21上有8个bp的插入。

G Dekomien, M Runte, R Gödde, J T Epplen
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引用次数: 69

摘要

我们研究了编码cGMP磷酸二酯酶(PDE6B) β亚基的基因,作为全身性进行性视网膜萎缩(gPRA)的候选基因,gPRA是一种常染色体隐性传播的狗眼病。从基因组文库中分离到PDE6B基因。单链构象多态性分析显示,14个犬种的不同亚群存在8个内含子变异。此外,我们在某些Sloughi犬的密码子816后发现了一个8 bp的插入。对pra影响和强制携带者Sloughis的分析表明,该突变在一个大的家系中与疾病状态共分离。确定的所有其他交换都不位于基因的功能相关部分(例如,在剪接信号一致位点)。在大多数犬种(拉布拉多寻回犬、藏獒、腊肠犬、藏獒、迷你贵宾犬、澳大利亚牛犬、可卡犬、柯利牧羊犬、萨洛斯猎狼犬、切萨皮克湾猎犬和约克夏犬)中,由于在患病动物中检测到杂合等位基因星座,PDE6B被排除为gPRA的候选基因。因此,PDE6B序列变异没有与引起gPRA的突变一起分离。现在可以为各种不同品种的狗提供与gPRA有关的直接和间接DNA测试。
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Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene.

We investigated the gene encoding the beta subunit of cGMP phosphodiesterase (PDE6B) as a candidate for generalized progressive retinal atrophy (gPRA), an autosomal recessively transmitted eye disease in dogs. The PDE6B gene was isolated from a genomic library. Single-strand conformation polymorphism analysis revealed eight intronic variations in different subsets of the 14 dog breeds investigated. In addition, we identified an 8-bp insertion after codon 816 in certain Sloughi dogs. Analysis of PRA-affected and obligatory carrier Sloughis showed that this mutation cosegregates with disease status in a large pedigree. All other exchanges identified were not located in functionally relevant parts of the gene (e.g., in the splice signal consensus sites). In most dog breeds (Labrador retriever, Tibetan mastiff, dachshund, Tibetan terrier, miniature poodle, Australian cattle dog, cocker spaniel, collie, Saarloos wolfhound, Chesapeake Bay retriever, and Yorkshire terrier), PDE6B was excluded as a candidate gene for gPRA because heterozygous allele constellations were detected in diseased animals. Therefore, the PDE6B sequence variations did not segregate together with the mutation(s) causing gPRA. Direct and indirect DNA tests concerning gPRA can be offered now for a variety of different dog breeds.

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