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A system and method for identifying balanced translocation carrier status of embryos

A balanced translocation and embryo technology, applied in the field of biology and genome sequence analysis, can solve the problems of high cost, time-consuming, and inability to accurately determine the state of carrying/not carrying the balanced translocation of the embryo

Active Publication Date: 2021-03-30
YIKON GENOMICS SHANGHAI CO LTD +1
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0009] At present, it has been reported that the method used to distinguish balanced translocation carriers is the Mate-pair library strategy to obtain breakpoints. This method is relatively more difficult to build a library, and a large number of PCRs are required to obtain the specific breakpoint position. Verification by next-generation sequencing is expensive and time-consuming
It is also reported that microdissection is used to obtain balanced translocation breakpoints. This method requires microdissection equipment, and the microdissection fragments must be purified before subsequent amplification experiments. This method is technically difficult. Larger, the process is more cumbersome, and the success rate is relatively low
[0010] In addition to the above-mentioned technical defects, none of the above-mentioned detection techniques can accurately determine the carrier / non-carrier status of the balanced translocation of the embryo

Method used

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  • A system and method for identifying balanced translocation carrier status of embryos
  • A system and method for identifying balanced translocation carrier status of embryos
  • A system and method for identifying balanced translocation carrier status of embryos

Examples

Experimental program
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Effect test

Embodiment 1

[0076] Example 1 System for Identifying Balanced Translocation Carrier Status of Embryos

[0077] The system for identifying the balanced translocation carrying state of an embryo comprises the following units:

[0078] (1) Sampling unit: obtain the biopsy cells of the embryo, the father's semen and the mother's DNA;

[0079] (2) Sequencing unit: select 15-30 single sperm from the semen obtained from the father, perform multiple annealing circular cycle amplification, and use a high-throughput sequencing platform for sequencing after constructing the library;

[0080] (3) Copy number analysis unit: analyze the chromosome copy number of the sequencing results, and preliminarily determine the position of chromosome translocation: through the analysis of chromosome copy number, the position of chromosome duplication or deletion is preliminarily judged as the position of chromosome translocation;

[0081] (4) SNP analysis unit: conduct SNP analysis on the chromosomal translocatio...

Embodiment 2

[0084] Example 2 Detection of Balanced Translocation Carrier Status of Embryos

[0085] The method for identifying the balanced translocation carrier state of an embryo comprises the following steps:

[0086] (1) Obtain the biopsy cells of the embryo, the semen of the father and the DNA of the mother. The chromosome of the father is: 46, XY, t(9,21) (q24, q22.1);

[0087] (2) Select 15-30 single sperm from the semen obtained from the father, perform multiple annealing circular cycle amplification, and use a high-throughput sequencing platform for sequencing after constructing the library. Samples 6, 12, 13 and 17 are Four single sperm samples with results such as Figure 1-4 and as shown in Table 1:

[0088] Table 1

[0089] sample name sample barcode Test results 6 6_2_MAL_CNV 22,Y,+9(p24.1→qter,~119M,×0),-21(p11.2→q21.1,~14M,×2) 12 12_2_MAL_CNV 22,Y,+9p(pter→p24.1,~9M,×2),-21q(q21.1→p24.1,~28M,×0) 13 13_2_MAL_CNV 22,Y,+9p(pter→p24.1,~...

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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.

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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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 徐家伟孙莹璞陆思嘉牛文彬高玉梅戴善军
Owner YIKON GENOMICS SHANGHAI CO LTD
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