Klein W, Dekomien G, Holmes N, Epplen J T
Ruhr-University, Bochum, Germany.
Anim Genet. 1998 Aug;29(4):316-8. doi: 10.1046/j.1365-2052.1998.00337.x.
Generalised progressive retinal atrophy (gPRA) is a heterogeneous group of hereditary diseases causing degeneration of the retina in dogs and other animals. The genetic origin is unknown in most cases. We have screened the coding sequence of the ROM1 gene for disease causing mutations in Tibetan Terriers, Miniature Poodles, Dachshunds and Chesapeake Bay Retrievers by single strand conformation polymorphism analysis (SSCP). Two polymorphisms have been identified by sequencing, one in exon 1 in all examined breeds (position 210: G-->A; Gly40Arg and position 252: G-->T; Ala53-Ser). Another polymorphism was present in exon 2 (position 1150: C-->T and position 1195: C-->T) segregating in Miniature Poodles. None of these polymorphisms were cosegregating with gPRA rendering a disease causing mutation in the ROM1 gene unlikely.
全身性进行性视网膜萎缩（gPRA）是一组异质性遗传性疾病，可导致犬类和其他动物的视网膜退化。在大多数情况下，其遗传起源尚不清楚。我们通过单链构象多态性分析（SSCP），对西藏梗犬、迷你贵宾犬、腊肠犬和切萨皮克湾寻回犬的ROM1基因编码序列进行了致病突变筛查。通过测序鉴定出两个多态性位点，一个在所有检测品种的外显子1中（位置210：G→A；甘氨酸40→精氨酸，位置252：G→T；丙氨酸53→丝氨酸）。另一个多态性位点存在于迷你贵宾犬外显子2中（位置1150：C→T和位置1195：C→T）。这些多态性位点均未与gPRA共分离，因此ROM1基因不太可能存在致病突变。
