Yamamoto S, Khani S C, Berson E L, Dryja T P
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA.
Exp Eye Res. 1997 Aug;65(2):249-53. doi: 10.1006/exer.1997.9998.
We explored the possibility that defects in the rhodopsin kinase gene might cause retinitis pigmentosa (RP) by evaluating 160 unrelated cases with dominant RP and 151 unrelated cases with recessive RP. One of five missense changes was discovered in each of six cases of dominant RP, but none of the missense changes cosegregated with disease among relatives. Heterozygous missense changes were found in two cases of recessive RP, and a heterozygous frameshift mutation was found in one additional case of recessive RP. Although the same DNA sequence alterations could be found heterozygously in the only affected sibling of each index case of recessive RP, no defect could be found in the other allele. Hence, none of the changes found in the cases of dominant or recessive RP was proven to be a cause of RP. The data indicate that defects in the rhodopsin kinase gene causing RP are either rare or nonexistent.
我们通过评估160例无亲缘关系的显性视网膜色素变性（RP）患者和151例无亲缘关系的隐性RP患者，探讨了视紫红质激酶基因缺陷可能导致视网膜色素变性的可能性。在6例显性RP患者中，每例都发现了5个错义突变中的1个，但这些错义突变在亲属中均未与疾病共分离。在2例隐性RP患者中发现了杂合错义突变，在另外1例隐性RP患者中发现了杂合移码突变。尽管在隐性RP各索引病例的唯一患病同胞中可以杂合地发现相同的DNA序列改变，但在另一个等位基因中未发现缺陷。因此，在显性或隐性RP病例中发现的改变均未被证实是RP的病因。数据表明，导致RP的视紫红质激酶基因缺陷要么罕见，要么不存在。
