OALib Journal期刊
全外显子组测序检测视网膜色素变性家系的致病基因 Detection of Pathogenic Genes in Pedigrees of Retinitis Pigmentosa by Whole-Exome Sequencing
Keywords: 视网膜色素变性 ,全外显子组测序 ,基因 ,常染色体隐性遗传
Abstract:
目的:应用全外显子组测序检测3个中国土家族常染色体隐性遗传的视网膜色素变性(ARRP)家系的致病基因。方法:对3个ARRP家系先证者进行病史采集、视力检查、眼底检查及全视网膜电图(ERG)检查。绘制家系图,收集先证者外周血抽提DNA,全外显子组测序和数据分析,筛选突变基因,对符合条件的突变进行Sanger测序验证和家系共分离分析。结果:收集3个中国土家族ARRP家系的先证者。患者表现为自幼或青少年发病,夜盲,进行性周边视力受损。眼底检查显示视网膜色素上皮骨细胞样沉着。全视野ERG显示a、b波振幅明显下降甚至记录不到。其中家系A和家系B均有近亲结婚史。家系B的患者自幼伴有耳聋。家系C为双胞胎姐妹患病。经全外显子组测序,根据RETNET网站上提供的基因数据,进行基因筛查和突变筛查排除后,在家系B中发现USH2A基因的突变符合条件,但Sanger测序验证,不符合家系共分离。结论:通过对3个中国土家族ARRP家系进行全外显子组测序及分析,发现一个可能的致病基因,但最终不符合生物信息学分析,说明全外显子组测序也有一定的局限性,这三个ARRP家系的遗传机制仍需进一步研究
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