先天性视网膜劈裂症基因突变型与临床表现型的关系

来源 :2014年中国眼底病论坛暨全国眼底病专题学术研讨会 | 被引量 : 0次 | 上传用户:xiaxia904
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目的 研究12个中国人XLRS家系及检测到的11种XLRSI基因突变与临床表现型的关系.方法 对12个XLRS家系的28例男性患者及女性携带者和正常对照者分别进行详细的眼科检查,包括视力、屈光度、裂隙灯及眼底检查,部分患者行全视野视网膜电图(ERG)、眼底血管造影、光学相干断层扫描(OCT)及A/B型超声检查.采用聚合酶链反应(PCR)和单链构象多态性(SSCP)分析,对XLRSI基因突变进行筛查,并对发现异常泳带的PCR产物进行DNA测序,以明确突变位点及突变类型.结果 12个家系的28例男性患者中27例有典型的黄斑劈裂及视网膜劈裂表现,ERG检查可见b波振幅下降,b/a波比值倒置.远视是此组病人主要屈光状态.12个家系中检出11种不同的XLRSI致病基因突变,其中有4种新发现的基因突变,并新发现1种非疾病相关多态性(NSP)改变.同时发现位于外显子1的移码突变(22 del T),外显子1与内含子1剪接位点突变(IVS1+2T to C)和Argl02Gln,Arg209His,Arg213Gln突变家系的患者,临床表现为严重型XLRS.结论 XLRSl基因突变是导致中国人先天性视网膜劈裂的原因,XLRS的严重临床表现与基因突变的类型及突变位点具有一定的相关性.
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