摘要
目的为了扩大USH2A突变的范围并进一步揭示USH2A基因在2型Usher综合征(Usher syndrome type 2, USH2)中的作用,对中国的USH2患者进行了USH2A基因突变筛选。方法从收集到的中国USH2患者及其家属的外周血中提取基因组DNA,设计特异性引物扩增USH2A基因编码区(外显子2-72)并使用Sanger测序研究等位基因并与NCBI数据库中的标准序列进行比对。使用PolyPhen-2等预测软件对筛选出来的突变的致病性进行预测。结果在1例患者中检测到2个之前未报道过的致病的杂合突变c.230dupA(Phe78Valfs*30)和c.4085C>T(p.Pro1362Leu)。结论通过全外显子测序鉴定了可能导致USH2的2个新的杂合USH2A基因致病突变。这一结果扩大了已知的USH2A基因致病突变的范围。
Objective To investigate mutations of USH2A gene in Chinese patients with Usher syndrome type 2(USH2).Methods Genomic DNA was extracted from the peripheral blood of unrelated 8 Chinese USH2 patients and their parents.The specific primers for amplifying the coding region(exons 2-72)of the USH2A gene were designed.Sanger sequencing was used to study alleles.Silico prediction tools such as PolyPhen-2 were used to predict the pathogenicity of the variants identified in these patients.Results Two novel heterozygous pathogenic variants c.230dupA(Phe78Valfs*30)and c.4085C>T(p.Pro1362Leu)were detected in a patient.Conclusion We identified two novel heterozygous pathogenic variants in the USH2A gene that might cause the USH2.It expands the spectrum of USH2A variants in USH.
作者
何晨昊
刘馨屿
钟子琳
陈建军
HE Chen-hao;LIU Xin-yu;ZHONG Zi-lin;CHEN Jian-jun(Tongji University School of Medicine,Shanghai 200092,China;Translation Research Institute of Brain and Brain-Like Intelligence,Fourth People's Hospital,Tongji University School of Medicine,Shanghai 200081,China;Dept.of Pediatrics,Tenth People's Hospital,Tongji University School of Medicine,Shanghai 200072,China)
出处
《同济大学学报(医学版)》
CAS
2020年第3期273-277,共5页
Journal of Tongji University(Medical Science)
基金
国家自然科学基金(81371062、81602582)。