Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T
University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics, Copenhagen, Denmark.
Hum Genet. 1997 Jan;99(1):115-20. doi: 10.1007/s004390050323.
Dominant optic atrophy, type Kjer, is an autosomal dominant eye disease that is characterized by progressive optic atrophy with onset in early childhood, decrease of visual acuity, colour vision defects and centrocecal scotoma. By examination of 5 Danish families and the use of polymorphic markers, we have refined the localization of the OPA1 locus and assigned it to a 1.4-cM interval on chromosome 3q28-3q29, between markers D3S3669 and D3S3562. This localizes the gene on a 3-Mb YAC contig covering the disease locus. We have also located a possible candidate gene HRY to this contig.
克杰尔型显性遗传性视神经萎缩是一种常染色体显性眼病，其特征为儿童早期起病的进行性视神经萎缩、视力下降、色觉缺陷及中心暗点。通过对5个丹麦家族进行检测并使用多态性标记，我们对OPA1基因座的定位进行了优化，将其定位于3号染色体q28 - q29区域上标记D3S3669和D3S3562之间1.4厘摩的区间内。这将该基因定位在一个覆盖疾病基因座的3兆碱基酵母人工染色体重叠群上。我们还在这个重叠群上定位了一个可能的候选基因HRY。
