MUTATION SPECTRUM OF THE RHODOPSIN GENE AMONG PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
MUTATION SPECTRUM OF THE RHODOPSIN GENE AMONG PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
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DOI：
10.1073/pnas.88.20.9370
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发表时间：
1991-10-01
影响因子：
11.1
通讯作者：
BERSON, EL
中科院分区：
文献类型：
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作者：
DRYJA, TP;HAHN, LB;BERSON, EL
我们在150名常染色体显性视网膜色素变性患者的不同家族中寻找视紫红质基因每个外显子的点突变。包括我们之前报道的4个突变，我们发现总共有17个不同的突变与这种疾病相关。这些突变中的每一个都是一个碱基取代对应于一个氨基酸取代。根据目前的视紫红质结构模型，17个突变氨基酸中有3个通常位于蛋白质的细胞质侧，6个位于跨膜结构域，8个位于磁盘内侧。150例患者中有43例（29%）携带其中1种突变，没有患者携带超过1种突变。到目前为止，在每一个有突变的家庭中，突变都与疾病共分离。我们在一个受影响的患者中发现了一个突变的例子，而在未受影响的父母中都没有（即，一个新的种系突变），这表明一些“分离”的视网膜色素变性病例携带了视紫红质基因的突变。
We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutations is a single-base substitution corresponding to a single amino acid substitution. Based on current models for the structure of rhodopsin, 3 of the 17 mutant amino acids are normally located on the cytoplasmic side of the protein, 6 in transmembrane domains, and 8 on the intradiscal side. Forty-three of the 150 patients (29%) carry 1 of these mutations, and no patient has more than 1 mutation. In every family with a mutation so far analyzed, the mutation cosegregates with the disease. We found one instance of a mutation in an affected patient that was absent in both unaffected parents (i.e., a new germ-line mutation), indicating that some "isolate" cases of retinitis pigmentosa carry a mutation of the rhodopsin gene.