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Method used for determining whether the number of sex chromosomes of fetus is abnormal, system and computer readable medium

A chromosome number and chromosome technology, applied in the field of biomedicine, can solve problems such as the need for improvement of sex chromosomes, and achieve the effects of reducing cost, increasing accuracy, and reducing pressure

Active Publication Date: 2014-11-26
BGI GENOMICS CO LTD
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  • Abstract
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  • Application Information

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Problems solved by technology

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

Method used

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  • Method used for determining whether the number of sex chromosomes of fetus is abnormal, system and computer readable medium
  • Method used for determining whether the number of sex chromosomes of fetus is abnormal, system and computer readable medium
  • Method used for determining whether the number of sex chromosomes of fetus is abnormal, system and computer readable medium

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Experimental program
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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 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, and the main band was concentrated at both ends of the 200 bp DNA molecule Adapters for sequencing were added.

[0086] Specifically, about 10 ng of DNA obtained from the above plasma samples was used for library construction by the modified Illumina / Solexa standard procedure. For specific procedures, refer to the product manual (Illumina / Solexa standard library construction manual provid...

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PUM

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Abstract

A method used for determining whether the number of sex chromosomes of fetus is abnormal, system and computer readable medium are provided. The method used for determining whether the number of sex chromosomes of fetus is abnormal, comprises the steps of: performing nucleic acid sequence detection for a pregnant woman sample containing nucleic acid of a fetus, so as to obtain a plurality of sequence detection data; comparing the sequence detection data with reference genome sequence of human, so as to obtain comparison sequence detection dataset; determining the number Q of comparison sequence detection data contained in the comparison sequence detection dataset; determining the number Ni of sequence detection data from i-th chromosome in the comparison sequence detection dataset, wherein i represents the serial number of the chromosome, the i-th chromosome at least comprises a Y chromosome and an optional X chromosome; determining sex of the fetus on the basis of the number Ny of the sequence detection data from the Y chromosome; and determining whether the number of sex chromosomes of the fetus is abnormal.

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, and chromosomal abnormalities are also called chromosomal 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 abnormal body develop...

Claims

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Application Information

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Patent Type & Authority Applications(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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