Device for non-invasively detecting genetic abnormalities of mother and embryo

A maternal and embryo technology, applied in the field of non-invasive embryo chromosome aneuploidy and other embryonic genetic abnormalities, can solve the problem of high cost of maternal genetic abnormality DNA detection, and achieve the effect of increasing detection costs and saving costs

Inactive Publication Date: 2018-11-13
首度生物科技(苏州)有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The cost of non-invasive prenatal embryo chromosomal aneuploidy detection and maternal genetic abnormality DNA detection alone is high

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0040] (1) Use the Cell-Free DNA BCT test tube of STRECK Company to collect 5ml of blood from pregnant women at 12 weeks of pregnancy according to the instructions of the corresponding equipment;

[0041] (2) Use the QIAamp Circulating Nucleic Acid Kit kit from Qiagen to extract the free DNA in the plasma according to the corresponding kit instructions,

[0042] (3) Use the KAPA Hyper Prep Kit kit from KAPA Biosystems to build a library for the extracted plasma cell-free DNA according to the corresponding kit instructions,

[0043] (4) Use the SeqCap EZ Human Exome Probes v3.0 DNA capture kit from Nimblegen to enrich the human exon sequences in the DNA library according to the corresponding kit instruction manual,

[0044] (5) Use the Nextseq500 model high-throughput sequencing instrument of Illumina to measure the data of 32G bases on the enriched DNA sequence. The length of the DNA sequence is 150 double-ended lengths,

[0045] (6) 70647 variations were detected from the se...

Embodiment 2

[0052] (1) For the DNA sequence data of Example 1, use the method (4) of the present invention to calculate the DNA content of the embryo, the DNA content of the calculated embryo is 3%, the DNA content of the mother is 97%, and the DNA content of the embryo is within a reasonable range of the average value of the population Inside.

[0053] (2) Calculate the variation of the DNA sequence data obtained in this detection, and find that there are more than 90 defect variations in the DNA, and the abundance of these variations is mostly distributed around 1.5% and 50%. Through the method (3), According to calculations in (6) and (7), more than 30 defective mutations were derived from embryos, and more than 60 were derived from mothers.

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PUM

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Abstract

The invention provides a device for non-invasively detecting genetic abnormalities of a mother and an embryo. According to the device, the non-invasive detection on genetic abnormalities of the embryois achieved, and aneuploidy of chromosomes of the embryo can be simultaneously non-invasively detected; and the genetic abnormalities of the mother can be simultaneously detected. Relative to commonly used non-invasive antenatal embryo chromosome aneuploidy detection, the device provided by the invention is added with the new detection function without increasing the detection cost, and the costis greatly saved.

Description

technical field [0001] The invention belongs to the technical field of biological genes, and specifically relates to a method for realizing non-invasive embryo chromosome aneuploidy and other embryo genetic abnormalities by using the whole exome sequencing technology. Background technique [0002] With the improvement of gene detection technology, the increase of data and the development of statistics, the analysis of plasma cell-free DNA (cfDNA) detection data of pregnant women can effectively solve the abnormalities that cannot be detected by the current non-invasive prenatal embryo DNA detection methods. Pregnant women at risk are provided with accurate and valid testing. [0003] It is currently known that there are various appearances caused by abnormal chromosomes, and the cell chromosomes of this group of people all have a certain number of abnormalities or structural abnormalities. [0004] With the discovery of free fetal DNA in the peripheral blood of pregnant wom...

Claims

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Application Information

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IPC IPC(8): G06F19/18
Inventor 王海龙唐元华
Owner 首度生物科技(苏州)有限公司
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