A chromosome aneuploidy detection system suitable for single cells and its application
A technology of aneuploidy and detection system, applied in the field of genetic engineering, can solve the problems of detection speed, operation complexity and cost, etc., and achieve the effect of reducing sequencing depth, improving detection resolution, and uniform data volume.
Active Publication Date: 2022-03-04
UNIMED BIOTECH SHANGHAI CO LTD
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Problems solved by technology
For the detection of aneuploidy in embryos, although some detection methods based on next-generation sequencing technology have emerged, they are not perfect in terms of detection speed, operational complexity, and cost.
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Embodiment 1
[0195] The samples are selected as follows:
[0196] Normal male leukocytes are denoted as male; normal female leukocytes are denoted as female; normal embryonic cells are denoted as EC-1; T22 abnormal embryonic cells (the T22 is an abbreviation for trisomy 22, which means trisomy 22), are denoted as EC-2; segmental deletion / duplication embryonic cells (q25.1-q26 duplication), denoted as EC-3.
[0197] It should be noted that, in the embodiment of the present invention, "normal" means that the cells do not have chromosomal aneuploidy, that is to say, the chromosomes in the cells are all integer multiples.
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The invention belongs to the technical field of genetic engineering, and in particular relates to a single-cell chromosome aneuploidy detection system and its application. The detection system includes a window division module, a segment division module, a segment copy rate calculation module, and a segment aneuploidy judgment module. The detection system uses up to 700k reads / sample, and can detect chromosome deletion / duplication of more than 5Mb in the sample, with an accuracy rate of up to 99.9%, reducing the depth of sequencing and reducing costs.
Description
technical field [0001] The invention belongs to the technical field of genetic engineering, and in particular relates to a single-cell chromosome aneuploidy detection system and its application. Background technique [0002] Aneuploidy refers to the absence or addition of one or several chromosomes in euploid chromosomes. Generally, gametes with abnormal number of chromosomes are formed due to a pair of homologous chromosomes not separating or separating in advance during meiosis. These gametes combine with each other or with normal gametes to produce various aneuploid cells. In addition, aneuploid cells are also produced during somatic cell division, such as tumor cells with a very high mutation rate. [0003] Aneuploid chromosomes are closely related to some human genetic diseases. The most common ones are Down syndrome, with an incidence of about 1 / 800, which is caused by an extra chromosome 21, and trisomy 13 and trisomy 18, which are caused by an extra chromosome 13 a...
Claims
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IPC IPC(8): G16B15/30G16B25/10G16B40/00C12Q1/6869
CPCG16B15/00G16B25/00G16B40/00C12Q1/6869
Inventor 李欣娱张斯敏
Owner UNIMED BIOTECH SHANGHAI CO LTD
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