MUTATIONS WITHIN THE RHODOPSIN GENE IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
MUTATIONS WITHIN THE RHODOPSIN GENE IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
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DOI：
10.1056/nejm199011083231903
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发表时间：
1990-11-08
影响因子：
158.5
通讯作者：
BERSON, EL
中科院分区：
文献类型：
--
作者：
DRYJA, TP;MCGEE, TL;BERSON, EL
背景：夜盲症是视网膜色素变性的早期症状。视杆细胞负责夜视，并使用视紫红质作为光敏色素。方法和结果：我们在人类视紫红质基因中发现了三种突变：每一种都只发生在一些常染色体显性视网膜色素变性家族的患病成员中。两个突变是涉及密码子347的单独核苷酸的C到T转换;第三个是密码子58中的C到G颠换。每个突变对应于视紫红质分子中一个氨基酸残基的变化。在106名无关的正常受试者中未发现这些突变。当这三种突变的发生率与先前报道的涉及codin 23的突变的发生率相加时，发现150例常染色体显性视网膜色素变性患者中有27例（18%）携带视紫红质基因中的这四种缺陷之一。所有27例患者在视网膜电图监测中都有异常的视杆细胞功能。看来，涉及密码子23突变的患者可能来自单一祖先。结论：在一些常染色体显性视网膜色素变性患者中，这种疾病是由视紫红质基因的多种突变之一引起的。
Background: Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision and use rhodopsin as the photosensitive pigment. Methods and Results: We found three mutations in the human rhodopsin gene: each occurred exclusively in the affected members fo some families with autosomal dominant retinitis pigmentosa. Two mutations were C-to-T transitions involving separate nucleotides of codon 347; the third was a C-to-G transversion in codon 58. Each mutation corresponded to a change in one amino acid residue in the rhodopsin molecule. None of these mutations were found in 106 unrelated normal subjects who served as controls. When the incidence of these three mutations was added to that of a previously reported mutation involving codin 23, 27 of 150 unrelated patients with autosomal dominant retinitis pigmentosa (18 percent) were found to carry one of these four defects in the rhodopsin gene. All 27 patients had abnormal rod function on monitoring of their electroretinograms. It appears that patients with the mutation involving codon 23 probably descend from a single ancestor. Conclusions: In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.