将显性视神经萎缩（OPA1）基因座精确定位于3号染色体q臂上2厘摩的区间内。
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
作者信息
Votruba M, Moore A T, Bhattacharya S S
机构信息
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
出版信息
J Med Genet. 1997 Feb;34(2):117-21. doi: 10.1136/jmg.34.2.117.
Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease characterised by variable optic atrophy and reduction in visual acuity. It has an insidious onset in the first decade of life and is clinically highly heterogeneous. It is associated with a centrocecal scotoma of varying size and density and an acquired blue-yellow dyschromatopsia. Recent studies of three large Danish pedigrees have mapped a gene for dominant optic atrophy (OPA1) to a 10 cM region on chromosome 3q, between markers D3S1314 and D3S1265 (3q28-qter). Genetic linkage analysis in five British pedigrees confirms mapping to chromosome 3q28-qter. Haplotype analysis of a seven generation pedigree positions the disease causing gene between loci D3S3590 and D3S1305, corresponding to a genetic distance of 2 cM. This represents a significant linkage refinement and should facilitate positional cloning of the disease gene.
常染色体显性遗传性视神经萎缩（OPA，MIM 165500）是一种眼部疾病，其特征为视神经萎缩程度各异以及视力下降。该病在生命的第一个十年中起病隐匿，临床症状高度异质性。它与大小和密度不同的中心暗点以及后天性蓝黄色色盲相关。最近对三个丹麦大家系的研究已将显性视神经萎缩基因（OPA1）定位到3号染色体长臂上位于标记D3S1314和D3S1265之间（3q28 - qter）的一个10厘摩区域。对五个英国家系的遗传连锁分析证实该基因定位于3号染色体长臂的28 - qter区域。对一个七代家系的单倍型分析将致病基因定位在基因座D3S3590和D3S1305之间，对应的遗传距离为2厘摩。这代表了显著的连锁精细定位，应有助于致病基因的定位克隆。
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