LOCALIZATION OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE TO CHROMOSOME-7Q
LOCALIZATION OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE TO CHROMOSOME-7Q
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DOI：
10.1038/ng0593-54
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发表时间：
1993-05-01
期刊：
影响因子：
30.8
通讯作者：
HUMPHRIES, P
中科院分区：
文献类型：
--
作者：
JORDAN, SA;FARRAR, GJ;HUMPHRIES, P
Retinitis pigmentosa is a group of clinically and genetically heterogeneous retinopathies and a significant cause of worldwide visual handicap. We have typed DNA from members of a Spanish family segregating an autosomal dominant form of retinitis pigmentosa (adRP) using a large series of simple sequence polymorphic markers. Positive two-point lod scores have been obtained with fifteen markers including D7S480 (theta(max)=0.00, Z(max)=7.22). Multipoint analyses using a subset of these markers gave a lod score of 7.51 maximizing at D7S480. These data provide definitive evidence for the localisation of an adRP gene on chromsome 7q, and highlight the extensive genetic heterogeneity that exists in the autosomal dominant form of this disease.
