Systems and devices for determining whether a fetus has an abnormal number of sex chromosomes

A technology for the number of chromosomes and X chromosomes, applied in the field of biomedicine, can solve problems such as sex chromosomes that need to be improved, and achieve the effects of reducing costs, increasing precision, and reducing pressure

Active Publication Date: 2016-12-28
BGI GENOMICS CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] However, current detection of sex chromosome number abnormalities still needs to be improved

Method used

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  • Systems and devices for determining whether a fetus has an abnormal number of sex chromosomes
  • Systems and devices for determining whether a fetus has an abnormal number of sex chromosomes
  • Systems and devices for determining whether a fetus has an abnormal number of sex chromosomes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0083] refer to figure 1 , Fetal sex chromosome aneuploidy variation detection was performed on the blood plasma of 4 pregnant women. Among them, 10 normal female fetal maternal plasma samples, 5 normal male fetal maternal plasma samples, and 4 male genome samples were selected as reference data sets.

[0084] DNA extraction:

[0085] According to the TiangenDP327-02Kit operation process, the DNA of the above-mentioned plasma samples (see Table 1 for the sample number) was extracted, and the extracted DNA was constructed according to the modified Illumina / Solexa standard library construction process. Adapters used for sequencing.

[0086] Specifically, about 10 ng of DNA obtained from the above plasma samples was subjected to the modified Illumina / Solexa standard procedure for library construction. For specific procedures, refer to the product manual (Illumina / Solexa standard library construction manual provided by www.illumina.com). The size of the DNA library and the inse...

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PUM

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Abstract

Methods, systems, and computer-readable media are provided for determining whether a fetus has an abnormal number of sex chromosomes. Wherein, the method for determining whether the fetus has an abnormal number of sex chromosomes includes: performing nucleic acid sequencing on a sample of pregnant women containing fetal nucleic acid, so as to obtain multiple sequencing data; Data set; determine the number Q of aligned sequencing data included in the aligned sequencing dataset; determine the number Ni of sequenced data originating from the ith chromosome in the aligned sequencing dataset, where i represents the number of chromosomes, and the ith The number chromosome includes at least the Y chromosome and optionally the X chromosome; determining the sex of the fetus based on the number Ny of sequencing data derived from the Y chromosome; and determining whether the fetus has an abnormal number of sex chromosomes.

Description

[0001] priority information [0002] none technical field [0003] The present invention relates to the field of biomedicine. In particular, it relates to methods, systems and computer readable media for determining whether a fetus has an abnormal number of sex chromosomes. Background technique [0004] Chromosomes are the basic building blocks of the cell nucleus. Normal somatic cell chromosome number is 46, and has a certain shape and structure. Chromosomal abnormalities in morphological structure or quantity are called chromosomal abnormalities (chromosome abnormalities), chromosomal abnormalities are also called chromosome dysgenesis, and diseases caused by chromosomal abnormalities are called chromosomal diseases. More than 3,000 types of human chromosome number abnormalities and structural aberrations have been discovered, and more than 100 types of chromosomal disease syndromes have been confirmed. Chromosomal abnormalities can lead to abnormal gene expression and...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G06F19/22G16B20/00G16B20/10
CPCC12Q1/6869C12Q1/6883C12Q2600/156G16B20/00G16B30/00G16B20/10
Inventor 李旭超潘小渝葛会娟张艳艳陈芳陈盛培
Owner BGI GENOMICS CO LTD
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