Fishman G A, Vandenburgh K, Stone E M, Gilbert L D, Alexander K R, Sheffield V C
Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612.
Arch Ophthalmol. 1992 Nov;110(11):1582-8. doi: 10.1001/archopht.1992.01080230082026.
Two members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine mutation in the second nucleotide of codon 267 in the rhodopsin gene that resulted in a proline-to-leucine change. Two members of another family with autosomal dominant retinitis pigmentosa showed a guanine-to-thymine mutation in the first nucleotide of codon 190 in the rhodopsin gene that resulted in an aspartate-to-tyrosine change. Three members from a third family with autosomal dominant retinitis pigmentosa were also found to have a mutation in codon 190; however, this guanine-to-adenine mutation in the first nucleotide of codon 190 resulted in an aspartate-to-asparagine change. The relatively less severe functional retinal impairment in our patients with a transmembrane codon 267 rhodopsin gene mutation is generally comparable with that observed in a previously described codon 58 transmembrane mutation. The two families with different intradiscal codon 190 mutations showed a considerable difference in severity of their disease.
一个患有常染色体显性遗传性视网膜色素变性的家族中的两名成员，被发现其视紫红质基因密码子267的第二个核苷酸发生了胞嘧啶到胸腺嘧啶的突变，这导致了脯氨酸到亮氨酸的变化。另一个患有常染色体显性遗传性视网膜色素变性的家族中的两名成员，其视紫红质基因密码子190的第一个核苷酸发生了鸟嘌呤到胸腺嘧啶的突变，这导致了天冬氨酸到酪氨酸的变化。来自第三个患有常染色体显性遗传性视网膜色素变性家族的三名成员也被发现密码子190发生了突变；然而，密码子190第一个核苷酸的这种鸟嘌呤到腺嘌呤的突变导致了天冬氨酸到天冬酰胺的变化。我们患有跨膜密码子267视紫红质基因突变的患者中相对较轻的功能性视网膜损伤，通常与先前描述的密码子58跨膜突变中观察到的情况相当。两个具有不同盘内密码子190突变的家族在疾病严重程度上表现出相当大的差异。
