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Detection method of fetal chromosomal aneuploidy

A technology of aneuploidy and chromosome, which is applied in the field of medical testing, can solve problems such as misjudgment and reduce the reliability of testing, and achieve the effects of improving accuracy, reducing waste, and increasing the scope of application

Active Publication Date: 2014-12-24
BGI BIOTECH WUHAN CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There is a significant difference between the normal sample and the abnormal sample in the value to be studied, but once the difference introduced by the different experimental conditions between the samples is greater than the difference between the abnormal sample and the normal sample, there will be a judgment error situation, reducing the reliability of the test

Method used

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  • Detection method of fetal chromosomal aneuploidy
  • Detection method of fetal chromosomal aneuploidy
  • Detection method of fetal chromosomal aneuploidy

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0075] Step 1: Obtain the sequencing data required for modeling

[0076] 89 normal samples were selected, and these samples were prepared and sequenced under different experimental conditions.

[0077] Briefly, the DNA library is prepared first, and then the nucleic acid fragment molecules are ligated to the Solexa sequencing adapter, and then the nucleic acid molecules with a nucleic acid fragment length of 150 to 300 base pairs are isolated and purified. The nucleic acid molecules connected with the adapter can hybridize with the complementary adapter on the surface of the flow cell. Under certain conditions, the nucleic acid molecules grow in clusters, and then go through 36 rounds of sequencing cycles on the Illumina Genome Analyzer, which is equivalent to measuring 35 bases per nucleic acid molecule. base-pair nucleic acid fragments. The sequence information measured next goes through a pipeline process, and finally the ELAND comparison result with the human genome seque...

Embodiment 2

[0124] Step 1: Obtain the sequencing data required for modeling

[0125] 53 normal samples were selected, and these samples were prepared and sequenced under different experimental conditions.

[0126] This step corresponds to figure 1 110, 120 steps.

[0127] Step 2: Build a detection model for chromosome 21

[0128] according to figure 1 The flow chart is carried out, and the process of establishing the mathematical model is optimized by the computer program. The computer program completes the search of the correlation window through different parameter selections, finds the optimal parameters, and establishes the functional relationship between the first type of chromosome window and the second type of chromosome window.

[0129] In step 130, based on sequencing, each nucleic acid fragment molecule measured can be positioned to the exact position of the genome by means of biological information analysis.

[0130] In step 140, a window is cut for each sample. Each chro...

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Abstract

The invention provides a detection method of fetal chromosomal aneuploidy, wherein the prenatal diagnosis of the fetal chromosomal aneuploidy is carried out using the values of amounts of nucleic acid molecules in the first kind of chromosome windows and the values of amounts of nucleic acid molecules in the corresponding windows of the second kind of chromosome, and the function relation between them.

Description

technical field [0001] The present invention relates to the field of medical detection, in particular to a method for detecting fetal chromosomal aneuploidy, the value of the molecular weight of nucleic acid combined with the window of the first type of chromosome and the amount of nucleic acid molecules of the corresponding window on the second type of chromosome, and Functional relationship between them to detect prenatal fetal chromosomal aneuploidy. Background technique [0002] Fetal aneuploidy refers to an abnormality in the amount of a chromosome or a region of a chromosome. The amount of this abnormality can be abnormally high, such as fetal trisomy 21, that is, one more chromosome 21 than normal diploid fetuses; or abnormally low, such as Turner syndrome patients are missing one or part of X chromosome. [0003] Cells isolated from the fetus, traditionally obtained using methods such as chorionic villus sampling (CVS) or amniocentesis, can be used for routine pren...

Claims

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Application Information

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IPC IPC(8): C12Q1/68G06F17/15
CPCC12Q1/6881C12Q2600/156C12Q1/6883
Inventor 李英睿李松岗杨广霞蒋馥蔓张秀清玄兆伶陈芳林静蓉
Owner BGI BIOTECH WUHAN CO LTD
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