Nervous system genetic disease gene united screening method, kit and preparation method thereof

• Main Authors: XIONG YUYU, YANG FULAN, ZOU XIAOWEN, YE SIBIN
• Format: Patent
• Language: Chinese; English
• Published: 12.10.2016
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

The invention provides a nervous system genetic disease gene united screening method, a kit and a preparation method thereof. The gene screening method includes: firstly constructing a whole-genome DNA library construction of a subject, then capturing a target gene sequence with the prepared nervous system genetic disease gene screening kit, then detecting the sample through a double-end 150bp sequencing mode of a high-throughput sequencing platform (Illumina HiSeq 3000), performing bioinformatic analysis of the data result, and finding out mutation information sites of genes related to nervous system genetic diseases so as to reach the genetic diagnosis purpose. The method provided by the invention can rapidly and accurately cover the exon regions of all nervous system genetic disease genes known at present. 本发明提供了种神经系统遗传性疾病基因联合筛查方法、试剂盒及其制备方法。本发明的基因筛查方法首先是构建受检者的全基因组DNA文库，然后利用制备的神经系统遗传疾病基因筛查试剂盒捕获靶基因序列，再通过高通量测序平台(Illumina HiSeq 3000)的双端150bp测序模式对样本进行检测，生物信息学分析数据结果，找出与神经系统遗传疾病相关基因的突变信息位点，以达到基因诊断的目的。本发明提供的方法能快速、