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广东地区视网膜色素变性两大家系RHO基因突变分析

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摘要 目的分析广东地区两个常染色体显性遗传视网膜色素变性(autosomal dominant retinitis pigmento-sa,ADRP)家系视紫红质(rhodopsin,RHO)基因突变,探讨基因突变与临床表型的关系。方法收集广东地区两个常染色体显性遗传视网膜色素变性家系的临床资料,对家系成员进行视力、视野、眼底镜检查;应用聚合酶链反应(PCR)和直接测序技术,对两个家系所有现存成员进行RHO基因检测。结果发现一家系患者为P347S杂合性突变,另一家系患者存在P171L杂合性突变,两家系的临床表现为发病早,病情进展快,表型较严重,该两家系正常成员均未发现RHO基因突变。结论RHO基因的P347S与P171L突变分别为该两家系视网膜色素变性的病因。该两种突变均导致较严重的临床表型,与分子基础一致。
作者 徐志勇 胡玉华 陈璐 黄小菊 张阮章 王沙燕
机构地区 暨南大学附属第二医院 暨南大学附属深圳眼科中心
出处 《广东医学》 CAS CSCD 北大核心 2009年第5期732-734,共3页 Guangdong Medical Journal
基金 广东省医学科研基金立项项目(编号:A2005616)
关键词 视网膜色素变性 视紫红质基因 基因突变 临床表型
分类号 R774.13 [医药卫生—眼科] R733.72 [医药卫生—肿瘤]
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参考文献10

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二级参考文献9

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广东医学
2009年 第5期

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