应用新一代测序技术进行Meckel-Gruber综合征家系突变分析研究

Mutation analysis for a Meckel-Gruber Pedigree with next-generation sequencing

目的:寻找一个两次临床拟诊为Meckel-Gruber妊娠家系的致病基因突变。方法:采用目标序列捕获芯片结合高通量测序技术寻找可疑的致病基因突变位点,利用经典的Sanger测序技术进行验证。结果:发现了全世界未见报道的CEP290基因的2种新发突变。结论:新一代测序技术适用于寻找遗传异质性较强的单基因遗传病的致病基因突变位点,从而对某些表型相似的疾病进行鉴别诊断。

Objective： To search disease-causing gene mutations for a Chinese Han nation non-consan- guineous marriage couple with two adverse pregnancies. Methods： The next-generation sequencing technology combined with Sanger sequencing was used for genetic mutation. Results： Two unreported mutations involved in CEP290 were identified. Conclusion： Target sequence capture combined with high-throughput sequencing technology can be applied to find disease-causing gene mutations in order to do differential diagnosis for some diseases with same phenotype.