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Chromosomal aneuploid and copy number variation detecting method and application thereof

A technique for aneuploidy and chromosomes, applied in the field of chromosomal aneuploidy and the detection of copy number variation above 1M, which can solve the problems of limiting the wide application of PGS technology, low throughput and high cost

Pending Publication Date: 2017-03-22
BGI BIOTECH WUHAN CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, due to the high cost and low throughput of the previous technology, the wide application of PGS technology in clinical practice is limited.

Method used

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  • Chromosomal aneuploid and copy number variation detecting method and application thereof
  • Chromosomal aneuploid and copy number variation detecting method and application thereof
  • Chromosomal aneuploid and copy number variation detecting method and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0123] The present invention uses commercially purchased cell lines, and there are 3 examples, the specific information is shown in the following table

[0124] The Array-CGH result of sample in the embodiment of table 1

[0125] sample name Array-CGH results Sample1 46,XY.ish del(17)(p11.2p11.2)(1.98M) Sample2 47,XX,+21 Sample3 46,XX.ish del(1)(p36.33)(1.63M)

[0126] 1. Acquisition of Cell Line Cells

[0127] Purchase the cell line cells Sample1, Sample2, and Sample3 (the cell line names are GM20743, GM03606, and GM22977 respectively, purchased from Coriell Institute, USA) whose karyotype has been clearly known, digest the cells, and divide them with a micromanipulator (Eppendorf, NK2). Select cells. Add Hochest (LIFETECHNOLOGIES, 1660845) staining solution to the digested cells, and stain for 15 minutes at room temperature in the dark. Spread the stained cell suspension on the surface of a glass slide that has been previously plated w...

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PUM

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Abstract

The invention provides a chromosomal aneuploid and copy number variation detecting method and application thereof. Particularly, sequencing is performed on whole genomes of to-be-detected samples, and sequencing data of the samples are obtained. When a certain chromosome in an embryonic cell is a trisomy chromosome or haplochromosome, the copy rate of the chromosome is increased or decreased compared with that of a normal diploid chromosome, information analysis is performed through biostatistics, and aneuploids can be accurately detected. An experimental result shows that the chromosomal aneuploid and copy number variation can be simply, rapidly and accurately detected through the method.

Description

technical field [0001] The invention belongs to the field of medicine and health. Specifically, the invention relates to a method for detecting chromosome aneuploidy and copy number variation above 1M and its application. Background technique [0002] Pre-implantation Genetic Screening (PGS) is an auxiliary technology in the reproductive assistance process of in vitro fertilization-embryo transfer (In Vitro Fertilization-embryo Transfer, IVF). This technology can reduce IVF failures caused by chromosome number or structural abnormalities and improve the pregnancy rate. Some studies have found that about 50% of the embryos formed by in vitro fertilization have chromosomal abnormalities, which can lead to early embryo loss, spontaneous abortion and stillbirth, which is one of the important reasons that limit the success of IVF. PGS is based on human assisted reproductive technology, which detects chromosomal aneuploidy and copy number variation of pre-implantation embryos, an...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6869C12Q2537/165C12Q2537/16
Inventor 刘萍史千玉陈大洋邱咏朱珠夏军谢林陈芳蒋慧徐讯牟峰
Owner BGI BIOTECH WUHAN CO LTD
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