发明名称 |
A METHOD AND A KIT FOR NON-INVASIVELY DETECTING FETAL DEAFNESS PATHOGENIC GENE MUTATIONS |
摘要 |
The present invention is directed to a method, kit and primers for detecting fetal deafness pathogenic gene mutations. The method of the invention comprises: (a) designing primers according to the pre-determined mutation loci of deafness pathogenic genes; (b) extracting plasma DNAs in a pregnant woman; (c) connecting the extracted plasma DNAs with pre-amplification linkers to obtain connected products; (d) PCR pre-amplifying the connected product to obtain pre-amplified products; (e) cyclizing the pre-amplified products to obtain cyclised DNAs; (f) PCR amplifying the cyclised DNAs using the designed primers to obtain amplified products; and (g) high throughput sequencing the amplified products and analyzing the mutations of the fetal deafness pathogenic genes. The invention can effectively determine whether the pre-determined loci on deafness pathogenic genes have been mutated as well as the mutation type. |
申请公布号 |
EP2937422(A1) |
申请公布日期 |
2015.10.28 |
申请号 |
EP20150164907 |
申请日期 |
2015.04.23 |
申请人 |
BERRY GENOMICS CO., LTD. |
发明人 |
LIU, YIQIAN;GUO, XIANCHAO;FU, YONG;HU, YUGANG;LI, TIANCHENG;ZHANG, JIANGUANG |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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地址 |
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