Eiberg H, Kjer B, Kjer P, Rosenberg T
University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics B24.4, Copenhagen, Denmark.
Hum Mol Genet. 1994 Jun;3(6):977-80. doi: 10.1093/hmg/3.6.977.
Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia and centrocecal scotoma of varying density. We examined three extended Danish pedigrees using highly informative short tandem repeat polymorphisms and found linkage of the disease gene (OPA1) to a (CA)n dinucleotide repeat polymorphism at locus D3S1314 (Zmax = 10.34 at theta M = F = 0.075). Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter).
克杰型显性视神经萎缩（麦库西克编号165500）是一种常染色体显性眼病。该病的特征是在生命的第一个十年中隐匿起病，伴有中度至重度视力损害、蓝黄色色盲及不同密度的中心暗点。我们利用高信息量的短串联重复多态性对三个丹麦大家系进行了检测，发现疾病基因（OPA1）与位于D3S1314位点的（CA）n二核苷酸重复多态性存在连锁关系（在θM = F = 0.075时，Zmax = 10.34）。通过另外两个3号染色体标记，我们得以将OPA1基因定位于D3S1314和D3S1265之间的区域（3q28 - qter）。
