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目的使用外显子结合目标区域捕获测序检测常染色体显性遗传玻璃体视网膜脉络膜病变(autosomal dominant vitreoretinochoroidopathy,ADVIRC)家系的致病基因,并分析其临床表型。方法收集重庆地区常染色体显性遗传玻璃体视网膜脉络膜病变先证者及4代成员的临床资料,完善眼科检查。采集该家系4例患者及8例健康成员的外周静脉血,提取基因组DNA,运用外显子结合目标区域捕获测序芯片进行测序,并对测序结果进行分析后得到候选致病基因性突变位点。运用PCR和直接测序进行验证,确定致病基因。根据致病基因的临床表型对该家系进行临床分析。结果基因检测发现第六外显子的杂合突变BEST1(c.704TR>C),家系患者中出现的小角膜、先天性白内障、周边视网膜脉络膜发育不良、晚期易发生青光眼等符合该突变基因的临床表型。结论 BEST1基因的c.704TR>C杂合突变为该ADVIRC家系的致病基因之一。
OBJECTIVE: To detect the causative genes of autosomal dominant vitreoretinopathy (ADVIRC) pedigree using exon-binding target region capture sequencing and analyze its clinical phenotype. Methods The clinical data of the first-case and fourth-generation members of autosomal dominant vitreoretinopathy in Chongqing were collected and the ophthalmic examination was completed. Peripheral venous blood was collected from 4 patients in this pedigree and 8 healthy volunteers. Genomic DNA was extracted and sequenced using exon-bound target region capture sequencing chips. Candidate pathogenicity mutations were obtained after sequencing. Use PCR and direct sequencing to verify and determine the pathogenic genes. The pedigree was analyzed clinically based on the clinical phenotype of the causative gene. Results The gene mutation of BEST1 (c.704TR> C) in exon 6, small cornea in congenital patients, congenital cataract, peripheral retinal choroid dysplasia, glaucoma in late stage, Clinical phenotype. Conclusion The c.704TR> C heterozygous mutation of BEST1 gene is one of the causative genes of this ADVIRC pedigree.