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Method and system for determining individual chromosome structure abnormity

A chromosomal abnormality and chromosome technology, applied in biochemical equipment and methods, microbial determination/inspection, etc., can solve the problem of high false positives and high systematic errors.

Pending Publication Date: 2019-01-29
SHENZHEN HUADA GENE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] High-throughput sequencing based on genomic DNA for translocation and recombination detection As early as 2011, the Talkowski team completed an effective search, but it did not effectively solve the high false positives caused by systematic errors caused by library construction, sequencing and later comparison analysis

Method used

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  • Method and system for determining individual chromosome structure abnormity
  • Method and system for determining individual chromosome structure abnormity
  • Method and system for determining individual chromosome structure abnormity

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0090] 1. Sample collection Lymphoblastoid cell lines with 1,000 human genomes were purchased from Coriell Institute for Medical Research.

[0091] 2. Cell culture:

[0092] 1) Recovery of cells Quickly thaw the cells in a 37-degree water bath, take them out when there is only a little solid left, and shake them gently to thaw them completely. Transfer to a 15mL centrifuge tube, add an equal volume of cell culture medium for centrifugation, the centrifugation conditions are: room temperature, 300g, 5 minutes; centrifuge model: Thermo scientific Sorvall ST 8. Discard the supernatant. Resuspend the cells in culture medium and transfer to a Petri dish. normal culture.

[0093] 2) Cell culture

[0094] The medium prepared with RPMI1640 plus 10% fetal bovine serum was cultivated in a 5% CO2 incubator at 37°C until the total number of cells reached 1*10 after cell counting. 5 quantity;

[0095] 3) Cell cryopreservation

[0096] Harvest the cells cultured in 2), centrifuge at ...

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Abstract

The invention provides a method for determining an individual chromosome structure abnormity. The method includes the following steps: (1) determining first candidate chromosome structure abnormity types of an individual by using at least one of karyotyping and microarray chip analysis to obtain a first candidate chromosome abnormality type set; (2) performing whole genome sequencing on tissue samples of the individual and preforming first data analysis on obtained sequencing results to obtain a second candidate chromosome abnormality type set; (3) performing whole genome sequencing on singlecell samples of the individual and preforming second data analysis on obtained sequencing results to obtain a third candidate chromosome abnormality type set; and (4) determining a final chromosome structure abnormity type of the individual based on the first candidate chromosome abnormality type set, the second candidate chromosome abnormality type set and the third candidate chromosome abnormality type set.

Description

technical field [0001] The present invention relates to the field of biological detection, in particular, the present invention relates to a method and a system for determining abnormality of individual chromosome structure. Background technique [0002] Chromosomal variation plays a vital role in affecting human health, especially closely related to the occurrence of mental development, cancer, infertility and other diseases. Since the International Conference on Chromosome Nomenclature in Paris in 1971, more than 3,000 species of human chromosome number abnormalities and structural aberrations have been discovered, and more than 100 chromosomal disease syndromes have been confirmed. Mental retardation and growth retardation are common features of chromosomal diseases. Down syndrome (Down's syndrome) is the most common chromosomal disease in humans. Other known chromosomal syndrome diseases include DiGeorge syndrome, Patau syndrome, Williams syndrome, Prader-Willi and Angel...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6837C12Q1/6869C12Q1/6883C12Q1/6886C12Q2600/156C12Q2535/122
Inventor 徐凤萍王文婧叶玲飞杨振军袁剑颖徐金金
Owner SHENZHEN HUADA GENE INST
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