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Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF OCULAR FUNDUS DISEASES
- Issue:
- 4
- DOI:
- 10.3760/j.issn:1005-1015.2002.04.002
- Key Word:
- 视网膜炎,色素性;染色体异常;突变;聚合酶链反应;视紫红质;DNA突变分析
Abstract： 目的观察一个常染色体显性视网膜色素变性(autosomal dominant retinitis pigmentosa,ADRP)家系的视紫红质(rhodopsin,RHO)基因突变特征. 方法抽取20个ADRP家系成员外周血3～5 ml并提取DNA;聚合酶链反应(polymerase chain reaction,PCR)扩增RHO基因第1～5外显子基因片段, 用直接测序法对20个DNA样本进行RHO基因突变检测. 结果该家系中10例ADRP患者的RHO基因的第182密码子发生G→A置换突变(Gly-182-Asp),而在2例患者和8个未患病家系成员中均未发现此突变. 结论 Gly-182-Asp突变不一定是ADRP家系的致病原因;在RHO基因附近可能存在新的基因, 但还需要进一步研究证明.
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