连锁分析精确定位了索斯比眼底营养不良基因于标记物D22S275和D22S278之间。
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
作者信息
Gregory C Y, Wijesuriya S, Evans K, Jay M, Bird A C, Bhattacharya S S
机构信息
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
出版信息
J Med Genet. 1995 Mar;32(3):240-1. doi: 10.1136/jmg.32.3.240.
Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q in a large genetic interval of approximately 25 cM. Independent genetic linkage analysis in a six generation British pedigree confirms linkage to the chromosome 22q region. A maximum two point lod score of 7.09 with no recombination was obtained with marker D22S280. Haplotype data positioned the disease between loci D22S275 and D22S278, thus significantly reducing the region on chromosome 22q where the gene is located.
索斯比眼底营养不良是一种常染色体显性疾病，在临床和组织病理学上与年龄相关性黄斑变性有显著相似之处，而年龄相关性黄斑变性是发达国家失明的主要原因之一。最近的研究表明，该疾病在22号染色体长臂上约25厘摩的一个大基因区间内存在基因定位。在一个六代英国家系中进行的独立遗传连锁分析证实了与22号染色体长臂区域的连锁关系。使用标记D22S280获得了最大两点连锁值7.09且无重组。单倍型数据将该疾病定位在基因座D22S275和D22S278之间，从而显著缩小了22号染色体长臂上该基因所在的区域。
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