常染色体显性遗传性视网膜色素变性中视紫红质的Gly114Asp突变

Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.

作者信息

Millán J M, Fuchs S, Paricio N, Wedemann H, Gal A, Nájera C, Prieto F

机构信息

Unidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain.

出版信息

Mol Cell Probes. 1995 Feb;9(1):67-9. doi: 10.1016/s0890-8508(95)91052-2.

DOI:10.1016/s0890-8508(95)91052-2

PMID:7760863

Abstract

Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.

摘要

利用单链构象多态性方法和直接测序法，对两个不同来源的常染色体显性遗传性视网膜色素变性家族进行了视紫红质突变筛查。我们在两个家族的视紫红质第114密码子中均发现了CGG-CAG替换。这一变化预示着甘氨酸被天冬氨酸取代，提示该变化是这些家族中疾病的病因。