Dekomien Gabriele, Epplen Joerg T
Human Genetics, Ruhr-University, 44780 Bochum, Germany.
Genet Sel Evol. 2003 Jul-Aug;35(4):445-56. doi: 10.1186/1297-9686-35-5-445.
The delta and gamma subunits of the cGMP-phosphodiesterase (PDE6D, PDE6G) genes were screened in order to identify mutations causing generalised progressive retinal atrophy (gPRA) in dogs. In the PDE6D gene, single nucleotide polymorphisms (SNP) were observed in exon 4, in introns 2 and 3 and in the 3' untranslated region (UTR) of different dog breeds. In the coding region of the PDE6G gene, exclusively healthy Labrador Retrievers showed an A-->G transition in exon 4 without amino acid exchange. SNP were also observed in introns 1 and 2 in different dog breeds. The different SNP were used as intragenic markers to investigate the involvement of both genes in gPRA. The informative substitutions allowed us to exclude mutations in the PDE6D and PDE6G genes as causing retinal degeneration in 15 of the 22 dog breeds with presumed autosomal recessively transmitted (ar) gPRA.
为了鉴定导致犬类全身性进行性视网膜萎缩（gPRA）的突变，对环磷酸鸟苷磷酸二酯酶（PDE6D、PDE6G）基因的δ和γ亚基进行了筛选。在PDE6D基因中，在不同犬种的第4外显子、第2和第3内含子以及3'非翻译区（UTR）中观察到单核苷酸多态性（SNP）。在PDE6G基因的编码区，仅健康的拉布拉多寻回犬在第4外显子中出现A→G转换，且无氨基酸交换。在不同犬种的第1和第2内含子中也观察到SNP。这些不同的SNP被用作基因内标记，以研究这两个基因与gPRA的关系。这些信息性替代使我们能够排除22个假定为常染色体隐性遗传（ar）gPRA的犬种中15个品种的PDE6D和PDE6G基因突变为导致视网膜变性的原因。
