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2
Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.一个与19号染色体q臂紧密连锁的常染色体显性遗传性视网膜色素变性日本家族中的可变表达。
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3
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本文引用的文献

1
New clinical test of retinal function based upon the standing potential of the eye.基于眼静息电位的视网膜功能新临床测试。
Br J Ophthalmol. 1962 Aug;46(8):449-67. doi: 10.1136/bjo.46.8.449.
2
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.常染色体显性遗传性视网膜色素变性基因定位于7号染色体长臂。
Nat Genet. 1993 May;4(1):54-8. doi: 10.1038/ng0593-54.
3
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.7号染色体短臂上常染色体显性遗传性视网膜色素变性的一个新基因座。
Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51.
4
A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.
Hum Mol Genet. 1993 Feb;2(2):207-8. doi: 10.1093/hmg/2.2.207.
5
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.人类视网膜变性慢（RDS）基因的突变可导致色素性视网膜炎或黄斑营养不良。
Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
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Rhodopsin mutations in autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性中的视紫红质突变
Hum Mutat. 1993;2(4):249-55. doi: 10.1002/humu.1380020403.
7
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.由于一个预测视紫红质第15位天冬酰胺被丝氨酸替代的点突变导致的常染色体显性“扇形”视网膜色素变性。
Hum Mol Genet. 1993 Jun;2(6):813-4. doi: 10.1093/hmg/2.6.813.
8
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.一个外周蛋白/RDS基因密码子153或154缺失的家族中出现的包括色素性视网膜炎、图案营养不良和黄斑黄色斑点症在内的表型变异。
Arch Ophthalmol. 1993 Nov;111(11):1531-42. doi: 10.1001/archopht.1993.01090110097033.
9
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.与两种视紫红质基因突变相关的显性视网膜色素变性。亮氨酸-40-精氨酸以及一个破坏外显子5的5'剪接位点的插入突变。
Arch Ophthalmol. 1993 Nov;111(11):1518-24. doi: 10.1001/archopht.1993.01090110084030.
10
A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.常染色体显性遗传性视网膜色素变性中一种新的第15密码子视紫红质基因突变与扇形病变相关。
Arch Ophthalmol. 1993 Nov;111(11):1512-7. doi: 10.1001/archopht.1993.01090110078029.

与19号染色体q臂相关的显性视网膜色素变性中的双峰表达。

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

作者信息

Evans K, al-Maghtheh M, Fitzke F W, Moore A T, Jay M, Inglehearn C F, Arden G B, Bird A C

机构信息

Department of Clinical Ophthalmology and Electrodiagnostics, Moorfields Eye Hospital, London.

出版信息

Br J Ophthalmol. 1995 Sep;79(9):841-6. doi: 10.1136/bjo.79.9.841.

DOI:10.1136/bjo.79.9.841
PMID:7488604
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC505271/
Abstract

A clinical, psychophysical, and electrophysiologic study was undertaken of two autosomal dominant retinitis pigmentosa pedigrees with a genetic mutation assigned to chromosome 19q by linkage analysis. Members with the abnormal haplotype were either symptomatic with adolescent onset nyctalopia, restricted visual fields, and non-detectable electroretinographic responses by 30 years of age, or asymptomatic with normal fundus appearance and minimal or no psychophysical or electroretinographic abnormalities. There was no correlation in the severity in parents and their offspring. Pedigree analysis suggested that although the offspring of parents with the genetic mutation were at 50% risk of having the genetic defect, the risk of being symptomatic during a working lifetime was only 31%. Such bimodal phenotypic expressivity in these particular pedigrees may be explained by a second, allelic genetic influence and may be a phenomenon unique to this genetic locus. Genetic counselling in families expressing this phenotype can only be based on haplotype analysis since clinical investigations, even in the most elderly, would not preclude the presence of the mutant gene.

摘要

对两个常染色体显性遗传性视网膜色素变性家系进行了临床、心理物理学和电生理学研究，通过连锁分析将一个基因突变定位到19号染色体长臂。具有异常单倍型的成员要么在青少年期出现夜盲症状、视野受限，到30岁时视网膜电图反应无法检测到；要么没有症状，眼底外观正常，心理物理学或视网膜电图仅有轻微异常或无异常。父母及其后代的病情严重程度之间没有相关性。家系分析表明，虽然携带基因突变的父母的后代有50%的风险携带该基因缺陷，但在工作年龄段出现症状的风险仅为31%。这些特定家系中的这种双峰表型表达可能由第二个等位基因遗传影响来解释，并且可能是该基因位点特有的现象。对于表现出这种表型的家庭，遗传咨询只能基于单倍型分析，因为即使是对年龄最大的患者进行临床检查，也不能排除突变基因的存在。