常染色体显性遗传性视网膜色素变性中的视紫红质突变
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
作者信息
Sung C H, Davenport C M, Hennessey J C, Maumenee I H, Jacobson S G, Heckenlively J R, Nowakowski R, Fishman G, Gouras P, Nathans J
机构信息
Howard Hughes Medical Institute, Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
出版信息
Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481-5. doi: 10.1073/pnas.88.15.6481.
DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence or absence of retinitis pigmentosa in 174 out of 179 individuals tested in 17 families. The mutations were absent from 118 control subjects with normal vision.
通过聚合酶链反应和变性梯度凝胶电泳，对161名患有常染色体显性遗传性视网膜色素变性的非亲缘关系患者的DNA样本进行了视紫红质基因突变筛查。结果发现，39名患者在12个氨基酸位置上携带13种不同点突变中的一种。在17个家族中接受检测的179名个体中，有174人的突变存在与否与视网膜色素变性的存在与否相关。118名视力正常的对照受试者未出现这些突变。
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