常染色体显性遗传性视网膜色素变性：一种与疾病基因座（RP4）存在基因连锁关系的新的多等位基因标记（D3S621）。
Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4).
作者信息
Kumar-Singh R, Bradley D G, Farrar G J, Lawler M, Jordan S A, Humphries P
机构信息
Department of Genetics, Trinity College, Dublin, Ireland.
出版信息
Hum Genet. 1991 Mar;86(5):502-4. doi: 10.1007/BF00194642.
We report the characterization of a new eight-allele microsatellite (D3S621) isolated from a human chromosome 3 library. Two-point and multi-locus genetic linkage analysis have shown D3S621 to co-segregate with the previously mapped RP4 (theta m = 0.12, Zm = 4.34) and with other genetic markers on the long arm of the chromosome, including D3S14 (R208) (theta m = 0.00, Zm = 15.10), D3S47 (C17) (theta m = 0.11, Zm = 4.95), Rho (theta m = 0.07, Zm = 1.37), D3S21 (L182) (theta m = 0.07, Zm = 2.40) and D3S19 (U1) (theta m = 0.13, Zm = 2.78). This highly informative marker, with a polymorphic information content of 0.78, should be of considerable value in the extension of linkage data for autosomal dominant retinitis pigmentosa with respect to locii on the long arm of chromosome 3.
我们报道了从人类3号染色体文库中分离出的一种新的八等位基因微卫星（D3S621）的特征。两点和多位点遗传连锁分析表明，D3S621与先前定位的RP4（θm = 0.12，Zm = 4.34）以及3号染色体长臂上的其他遗传标记共分离，这些标记包括D3S14（R208）（θm = 0.00，Zm = 15.10）、D3S47（C17）（θm = 0.11，Zm = 4.95）、Rho（θm = 0.07，Zm = 1.37）、D3S21（L182）（θm = 0.07，Zm = 2.40）和D3S19（U1）（θm = 0.13，Zm = 2.78）。这种多态信息含量为0.78的高信息量标记，对于扩展常染色体显性视网膜色素变性与3号染色体长臂上基因座相关的连锁数据应具有相当大的价值。
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