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Detection method for determining abnormality of chromosome number in biological samples

A detection method and chromosome technology, applied in the field of nucleic acid detection, can solve the problems of abnormal, non-invasive detection of fetal chromosome number and lack of accurate quantitative ability of gene copy number, etc., and achieve the effect of broad application prospects.

Active Publication Date: 2019-04-16
TSINGHUA UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] In order to solve the problem that it is difficult to non-invasively detect fetal chromosome number abnormalities from maternal peripheral blood due to insufficient ability to accurately quantify gene copy numbers, the present invention discloses a detection method for chromosome number changes

Method used

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  • Detection method for determining abnormality of chromosome number in biological samples
  • Detection method for determining abnormality of chromosome number in biological samples
  • Detection method for determining abnormality of chromosome number in biological samples

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0018] Example 1: Detecting whether the number of chromosomes in a biological sample is abnormal based on droplet digital PCR

[0019] figure 1 It is a flow chart of detection of chromosome quantity change based on droplet digital PCR. In the figure, the detection process is divided into four steps.

[0020] Step 1: Calculate the minimum number of gene types that need to be detected on each chromosome.

[0021]The variation value of the number of chromosomes refers to the minimum absolute difference that may occur between the number of the chromosomes to be detected under abnormal conditions and the number of chromosomes to be detected under normal conditions in a single genome of the organism. Taking the number of human chromosome 21 on a single genome as an example, the number of this chromosome may be 3 under abnormal conditions, and the number of this chromosome is 2 under normal conditions, so the minimum absolute difference between the two that may appear before is δ= ...

Embodiment 2

[0041] Example 2: Detecting whether the number of fetal chromosome 21 in cervical smear samples is abnormal based on droplet digital PCR

[0042] Based on the procedure described in Example 1, in this example, human chromosome 1 is used as a reference chromosome to detect changes in the number of human chromosome 21.

[0043] Step 1: For human chromosome No. 21, the change value of the number of chromosomes to be detected is |3-2|=1; the quality of the nucleic acid measured by an ultraviolet spectrophotometer is 10ng (10000pg), and calculated: sample The nucleic acid equivalent in is 10000 / 6.4×2=3125.0; the confidence level is 95%.

[0044] If it is to realize the detection that the change value of chromosome number is δ=1 (S>R), then U is required - (P S ,N S ) / kU + (P R ,N R )-2>δ, the calculation can get p*=1.1E-3, then -10 6 ×ln(1-p*)=1100.6. Divide the calculation result of 1100.6 by the nucleic acid equivalent of 3125.0 to get: 1100.6 / 3125.0<1, that is, the minim...

Embodiment 3

[0050] Example 3: Based on digital PCR to detect whether the number of chromosomes 13, 18, 21, X and Y in the fetal cell-free nucleic acid of the maternal peripheral blood sample is abnormal

[0051] Based on the process described in Example 1, in this example, human chromosome No. 1 is used as a reference chromosome to detect changes in the number of five human chromosomes No. 13, No. 18, No. 21, X and Y.

[0052] Step 1: For chromosomes No. 13, No. 18 and No. 21, the change value of the number of chromosomes to be detected is δ=|3-2|=1, and for X and Y chromosomes, the change value of the number of chromosomes to be detected Also δ=1, but divided into the following four different situations: δ=|3-2|=1 (only X chromosome will appear), δ=|2-1|=1 (only X chromosome will appear), δ=|1-2|=1 (only Y chromosome will appear) or δ=|1-0|=1 (only Y chromosome will appear), so it is necessary to use different S>R and S<R two cases Formula; the quality of the nucleic acid measured by th...

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Abstract

The invention provides a detection method for determining the abnormality of the chromosome number in biological samples. The method includes the following steps that the minimum quantity of to-be-detected genes on each to-be-detected chromosome is determined, at least one reference chromosome is selected, the genes with the known amount on each to-be-detected chromosome and the copy number of thegenes with the known amount on each reference chromosome are determined; the number of the to-be-detected chromosome in a sample is determined, and thus whether the amount of the to-be-detected chromosome is abnormal is determined. The method can accurately and concurrently detect the abnormalities of multiple chromosomes, and has broad application prospects for noninvasive prenatal screening oftrisomy 13, 18 and 21 syndromes, X and Y chromosome abnormalities and other fields with big demands.

Description

technical field [0001] The invention relates to the field of nucleic acid detection, in particular to a detection method for determining whether the number of chromosomes in a biological sample is abnormal. Background technique [0002] For humans, changes in the number of chromosomes can cause serious congenital diseases. At present, the most common one is that chromosome 21 changes from normal diploid to abnormal triploid, which is called congenital stupid type, and the incidence rate is about 1 / 700 to 1 / 600. Chromosome 18 and chromosome 13 will also undergo similar quantitative changes, resulting in a syndrome of lesions in perception, limbs, development, etc. The incidence rates are about 1 / 2000 and 1 / 4000, respectively. In addition, changes in the number of X and Y chromosomes can cause serious problems in sexual development. [0003] The earliest method used to detect changes in the number of chromosomes is karyotype analysis. This method requires the use of interven...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 朱修锐祝令香郭永陈芊如王芳刘宝霞荆高山杨文军高娜
Owner TSINGHUA UNIV
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