Small K W, Syrquin M, Mullen L, Gehrs K
Macula Center, Jules Stein Eye Institute, UCLA School of Medicine 90095, USA.
Am J Ophthalmol. 1996 Jan;121(1):13-8. doi: 10.1016/s0002-9394(14)70529-x.
We studied a single, large family with autosomal dominant cone degeneration in order to map the disease-causing gene.
Seventy-three individuals in this family were examined, and 34 were found to be affected. Blood samples from 34 affected and unaffected family members were obtained for DNA analysis and linkage mapping. Fifty-three genetic markers were analyzed in this family by using short tandem repeat markers. These markers were primarily in candidate genomic regions.
Marker D17S796 generated a significantly positive LOD score of 4.21 (theta = .04; 10,000:1 odds in favor of linkage). Marker D17S513 gave a significant LOD score of 3.1 (theta = .096; 1,000:1 odds in favor of linkage). Other markers in the region generated suggestive findings, such as D17S786, with a LOD score of 2.7, and D17S945, with a LOD score of 2.41.
Our results indicate that a genetic defect that causes autosomal dominant cone degeneration is located on chromosome 17p in the region of recoverin. Recoverin, a retinal expressed gene, is an appealing candidate for this disease.
我们研究了一个患有常染色体显性遗传性视锥细胞变性的大家族，以确定致病基因的位置。
对该家族中的73名个体进行了检查，发现其中34人患病。采集了34名患病和未患病家庭成员的血样用于DNA分析和连锁图谱分析。利用短串联重复序列标记对该家族中的53个遗传标记进行了分析。这些标记主要位于候选基因组区域。
标记D17S796产生了显著的正LOD值4.21（θ = 0.04；连锁优势比为10,000:1）。标记D17S513产生了显著的LOD值3.1（θ = 0.096；连锁优势比为1,000:1）。该区域的其他标记产生了提示性结果，如D17S786，LOD值为2.7；以及D17S945，LOD值为2.41。
我们的结果表明，导致常染色体显性遗传性视锥细胞变性的基因缺陷位于17号染色体短臂上视恢复蛋白所在的区域。视恢复蛋白是一种在视网膜中表达的基因，是该疾病的一个有吸引力的候选基因。
