Saga M, Mashima Y, Akeo K, Oguchi Y, Kudoh J, Shimizu N
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Hum Genet. 1993 Nov;92(5):519-21. doi: 10.1007/BF00216463.
We have screened for possible disease-causing mutations in the peripherin/retinal degeneration slow (RDS) gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ADRP). Using polymerase chain reaction-single strand conformation polymorphism analysis, a novel mutation at codon 214 was found in which the highly conserved cysteine was replaced with a serine in one family. The mutation at codon 214 was found in all three affected siblings of this family, but none of the 40 normal control individuals had this mutation. These results strongly suggest that the mutation is pathogenic for RP in this family. The clinical phenotype for this family is a late-onset form of ADRP.
我们对13个患有常染色体显性遗传性视网膜色素变性（ADRP）的日本家族的外周蛋白/视网膜变性慢（RDS）基因进行了可能致病突变的筛查。通过聚合酶链反应-单链构象多态性分析，在一个家族中发现了第214密码子处的一个新突变，其中高度保守的半胱氨酸被丝氨酸取代。该家族的所有三名患病兄弟姐妹均发现了第214密码子处的突变，但40名正常对照个体中均无此突变。这些结果强烈表明该突变对此家族中的视网膜色素变性具有致病性。该家族的临床表型为ADRP的晚发型。
