[视网膜色素变性、图案性营养不良和黄斑黄白色眼底病变，与视紫红质、外周蛋白/RDS和ROM-1基因突变无关]
[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].
作者信息
Trujillo M J, García B, Ayuso C
机构信息
Instituto Investigaciones Oftalmológicas Castroviejo, Universidad Complutense de Madrid, Fundación Jiménez Díaz, Universidad Autónoma de Madrid, España.
出版信息
Arch Soc Esp Oftalmol. 2000 Apr;75(4):281-6.
PURPOSE
Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out.
METHODS
A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis.
RESULTS
No mutation was found in any of the family members.
CONCLUSIONS
Mutations in other genes may be involved in retinal dystrophies.
目的
已有多个家族被描述，其中多种视网膜营养不良显然是由外周蛋白/RDS基因的突变引起的。我们报告了一个新的家族的临床和遗传学发现，该家族患有具有色素性视网膜炎、图案性营养不良和黄斑病变特征的视网膜营养不良，其中外周蛋白/RDS基因的突变已被排除。
方法
通过PCR扩增和单链构象多态性（SSCP）分析，对该家族的患病成员进行视紫红质、外周蛋白/RDS和ROM1基因的筛查。
结果
在任何家族成员中均未发现突变。
结论
其他基因的突变可能与视网膜营养不良有关。
Zotero 插件