Souied E, Soubrane G, Benlian P, Coscas G J, Gerber S, Munnich A, Kaplan J
Genetics Laboratory INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
Am J Ophthalmol. 1996 Jan;121(1):19-25. doi: 10.1016/s0002-9394(14)70530-6.
To screen for mutations in the rhodopsin, peripherin/RDS, and ROM1 genes in a family affected with retinitis punctata albescens. Because clinical heterogeneity was observed in this family, with some members affected with retinitis punctata albescens and one member affected with features typical of retinitis pigmentosa, we analyzed the apolipoprotein E gene to elucidate this unusual intrafamilial heterogeneity.
The coding sequences of these genes were analyzed with a combination of single-strand conformation polymorphism and direct sequence analysis. Haplotypes of the apolipoprotein E gene were analyzed by polymerase chain reaction and enzymatic digestion.
The Arg135Trp mutation in the rhodopsin gene was observed in all affected members of this family, but no mutation was detected in the peripherin/RDS or ROM1 genes. The e4 allele of the apolipoprotein E gene apparently cosegregated with the albescens phenotype in this family.
The albescent phenotype in retinal dystrophy appears to not be caused exclusively by a peripherin/RDS gene mutation, and we suggest that the apolipoprotein E gene may play a role in the albescent phenotype.
筛查一个患点状视网膜白化病家族的视紫红质、外周蛋白/RDS和ROM1基因的突变情况。由于在该家族中观察到临床异质性，一些成员患点状视网膜白化病，一名成员患视网膜色素变性的典型特征，因此我们分析了载脂蛋白E基因以阐明这种不寻常的家族内异质性。
采用单链构象多态性和直接序列分析相结合的方法分析这些基因的编码序列。通过聚合酶链反应和酶切分析载脂蛋白E基因的单倍型。
在该家族所有患病成员中均观察到视紫红质基因的Arg135Trp突变，但在外周蛋白/RDS或ROM1基因中未检测到突变。载脂蛋白E基因的e4等位基因在该家族中显然与白化病表型共分离。
视网膜营养不良中的白化病表型似乎并非仅由外周蛋白/RDS基因突变引起，我们认为载脂蛋白E基因可能在白化病表型中起作用。
