视网膜变性患者中视锥细胞环鸟苷酸磷酸二酯酶α'-亚基编码基因的筛查。
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.
作者信息
Gao Y Q, Danciger M, Longmuir R, Piriev N I, Zhao D Y, Heckenlively J R, Fishman G A, Weleber R G, Jacobson S G, Stone E M, Farber D B
机构信息
Jules Stein Eye Institute, University of California Los Angeles School of Medicine, CA 90095-7008, USA.
出版信息
Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1818-22.
PURPOSE
To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa.
METHODS
The 22 exons of the PDE6C gene were screened for mutations either by denaturing gradient gel electrophoresis and single-strand conformation polymorphism electrophoresis (SSCP) or by SSCP alone; variants were sequenced directly.
RESULTS
Although many sequence variants were found, none could be associated with disease.
CONCLUSIONS
The results show that PDE6C was not the site of the amutations responsible for the types of inherited retinal degenerations analyzed in the large population of patients 'in the present study. The types of degeneration included those that predominantly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retinitis pigmentosa) or that have a predilection for disease in the macula (macular dystrophies).
目的
在456名患有各种形式遗传性视网膜疾病的无亲缘关系患者中，筛查编码视锥细胞环磷酸鸟苷（cGMP）磷酸二酯酶（PDE6C）α'-亚基的基因外显子，这些疾病包括视锥细胞营养不良、视锥-视杆细胞营养不良、黄斑营养不良以及单纯性/复杂性和常染色体隐性视网膜色素变性。
方法
通过变性梯度凝胶电泳和单链构象多态性电泳（SSCP）或仅通过SSCP筛查PDE6C基因的22个外显子中的突变；对变异体进行直接测序。
结果
虽然发现了许多序列变异，但没有一个与疾病相关。
结论
结果表明，在本研究的大量患者中，PDE6C不是导致所分析的遗传性视网膜变性类型的突变位点。这些变性类型包括主要影响视锥细胞介导功能的（视锥细胞和视锥-视杆细胞营养不良）或视杆细胞介导功能的（视网膜色素变性）或易患黄斑疾病的（黄斑营养不良）。
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