视紫红质基因中的160苏氨酸突变与色素性视网膜炎相关。
160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.
作者信息
Capeans C, Blanco M J, Lareu M V, Salas A, Piñeiro A, Sánchez-Salorio M, Carracedo A
机构信息
Department of Ophthalmology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.
出版信息
Hum Hered. 1998 Sep-Oct;48(5):237-40. doi: 10.1159/000022809.
PMID:9748691
Abstract
Mutations in the rhodopsin gene were studied in 23 unrelated Spanish patients with sporadic retinitis pigmentosa (RP). A codon 160 Thr C-->A transition was found in 4 of the 23 patients vs. none of the 159 controls (p < 0.001) suggesting that this mutation may be an informative marker in RP.
摘要
对23名患有散发性视网膜色素变性（RP）的非亲属西班牙患者的视紫红质基因中的突变进行了研究。在23名患者中的4名患者中发现了密码子160的苏氨酸C→A转换，而在159名对照者中均未发现（p < 0.001），这表明该突变可能是RP中的一个有用标记。
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