7号染色体短臂上常染色体显性遗传性视网膜色素变性的一个新基因座。
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
作者信息
Inglehearn C F, Carter S A, Keen T J, Lindsey J, Stephenson A M, Bashir R, al-Maghtheh M, Moore A T, Jay M, Bird A C
机构信息
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
出版信息
Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51.
Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes--rhodopsin and peripherin--while a third locus has been implicated by linkage data. However, families have been reported in which all three known loci have been excluded. We report linkage of adRP in one such family to two microsatellite markers on chromosome 7p. D7S435 has previously been localized to 7p13-15.1; D7S460, previously only localized to chromosome 7, maps to within 2 cM of D7S435 with a lod score of 12.15. Two point linkage analysis between these markers and adRP gave lod scores of 5.65 (theta = 0) and 4.19 (theta = 0.046) for D7S460 and D7S435, respectively. Multipoint analysis gave a maximum lod score of 8.22. These data strongly suggest a new adRP locus on chromosome 7p.
常染色体显性遗传性视网膜色素变性（adRP）已知是由两个不同的视网膜基因——视紫红质和外周蛋白——的突变引起的，而连锁数据表明还有第三个基因座与之相关。然而，已有报道称在一些家族中，所有这三个已知的基因座都被排除了。我们报告了在这样一个家族中，adRP与7号染色体短臂上的两个微卫星标记连锁。D7S435先前已定位到7p13 - 15.1；D7S460先前仅定位到7号染色体，它与D7S435的距离在2厘摩以内，对数优势分数为12.15。这些标记与adRP之间的两点连锁分析得出，D7S460和D7S435的对数优势分数分别为5.65（θ = 0）和4.19（θ = 0.046）。多点分析得出的最大对数优势分数为8.22。这些数据强烈提示在7号染色体短臂上存在一个新的adRP基因座。
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