System and method for identifying balanced translocation carrier state of embryo

A technique for balancing translocations and embryos, which is applied in genome sequence analysis and biological fields, and can solve problems such as cumbersome processes, long time-consuming, and high costs
CN106929595AActive Publication Date: 2017-07-07YIKON GENOMICS SHANGHAI CO LTD +1
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
YIKON GENOMICS SHANGHAI CO LTD
Publication Date
2017-07-07

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Abstract

The invention relates to a system and method for identifying the balanced translocation carrier state of an embryo. The system includes the following units: (1) a sampling unit; (2) a sequencing unit; (3) a copy number analysis unit; (4) an SNP analysis unit and (5) a comparison unit. The system and method provided by the invention adopt a single sperm amplification mode and a targeted PCR way to look for a break site, the operation is relatively simple, the PCR amplification bias can be effectively reduced, the sensitivity is high, embryo aneuploid screening and balanced translocation carrier state information can also be provided, and the system and method have relatively simple and practicable operation, are low in cost, and are easy for popularization and application.
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Description

technical field

[0001] The invention relates to the field of biotechnology, to the field of genome sequence analysis, and in particular to a method for identifying the carrying state of an embryo's balanced translocation. Background technique

[0002] Medical genetics is the most cutting-edge discipline in medicine at present, and it is also an emerging discipline. It is the main research subject of life science. Medical genetics mainly uses DNA technology to study the relationship between diseases and genes. Develop new diagnostic techniques and treatment methods. It can provide more efficient new medical services for the early diagnosis of diseases, the prevention of birth defects, and the diagnosis and treatment of intractable diseases from the molecular level. The development of medical genetics is inseparable from the rapid progress of various technologies, especially the development of high-throughput sequencing technology in recent years.

[0003] The birth of hig...

Claims

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