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Method for detecting gene copy number variation

A gene copy number and detection method technology, which is applied in the field of gene copy number variation detection using similar sequences combined with high-resolution melting curve analysis, can solve the problem of inability to distinguish between two allelic sequences, heterozygous SNP sites, and low detection sensitivity and other issues, to achieve the effect of improving sensitivity and specificity, accurate results, and high sensitivity

Active Publication Date: 2012-04-11
郭奇伟 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The use of this principle has the following disadvantages: First, the premise of this method is that the SNP site must be heterozygous, otherwise HRM cannot distinguish two allelic sequences
This is the main reason for the low detection sensitivity

Method used

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  • Method for detecting gene copy number variation
  • Method for detecting gene copy number variation
  • Method for detecting gene copy number variation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0037] Example 1 Detection of human autosomal copy number variation by internal standard method

[0038] Trisomies 21, 18, and 13 are the three most common autosomal aneuploidies in humans. Trisomy 21, also known as Down syndrome, occurs in about 1 in 700 live babies. Down syndrome comprises a spectrum of genetic disorders that lead to high-level deformities including learning disabilities, intellectual disabilities, and disabilities. The disease cannot be cured the day after tomorrow, so it is particularly important for the prenatal diagnosis of Down syndrome. The incidence rates of trisomy 18 and trisomy 13 are about 1 / 5000 and 1 / 25000, and the affected fetuses have serious deformities and physiological defects, so the prenatal diagnosis of the two is also very important.

[0039] 1. Materials

[0040] 1. Instrument:

[0041] Real-time fluorescent PCR instrument, pipette, centrifuge.

[0042] 2. Primer design:

[0043] The present invention selects a similar sequence o...

Embodiment 2

[0064] Example 2 Detection of Human Sex Chromosome Copy Number Variation by Internal Standard Method

[0065] Except for trisomy 21, most of the chromosomal aneuploidies that can survive after birth are sex chromosome aneuploidies, such as 45, X and 47, XXY. The incidence of sex chromosome aneuploidy is relatively high, such as 45 in females, the ratio of X is about 1 / 2000, and the ratio of 47, XXY in males is about 1 / 1000. Sex chromosome aneuploidy has a certain impact on the phenotypic development of patients, especially in the reproductive system. Although sex chromosome aneuploidy cannot be cured, early detection of sex chromosome aneuploidy and supplemented with hormone therapy during development can effectively alleviate symptoms. Therefore, early and rapid diagnosis of sex chromosomes is particularly important.

[0066] 1. Materials

[0067] 1. Instrument:

[0068] Real-time fluorescent PCR instrument, pipette, centrifuge.

[0069] 2. Primer design:

[0070] The pr...

Embodiment 3

[0091] The detection of trisomy 21 DNA under the background of embodiment 3 normal genome DNA

[0092] A chimera refers to an individual with cells of two or more genotypes. Depending on the proportion of abnormal cells, mosaicism manifests as a range of pathologies that vary in severity. In general, the greater the proportion of abnormal cells, the more severe the symptoms.

[0093] At present, non-invasive prenatal diagnosis mainly refers to obtaining the genetic information of the fetus through the detection of fetal free DNA or RNA in maternal blood, so as to avoid the risk of invasive sampling, which is the development direction of prenatal diagnosis in the future. Studies have shown that the amount of cell-free DNA in the fetus in the first trimester accounts for about 10% of the total amount of cell-free DNA in the mother's plasma, and the lower content has very strict requirements for detection technology.

[0094] In order to illustrate the application ability of th...

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Abstract

The invention relates to the gene detecting field, especially a method for detecting gene copy number variation. The method comprises: selecting an endogenous or exogenous similar sequence which is similar to and different from the gene sequence to be detected; designing a corresponding a primer for amplifying the gene sequence to be detected and the similar sequence simultaneously, then performing the high-resolution melting curve analysis; when there is copy number variation in the gene to be detected, the result of the high-resolution melting curve analysis can be clearly distinguished from the result of the analysis of the wild-type gene to be tested, so as to realize the detecting target. The method of the invention is not only suitable for gene copy number variation, which is equally suitable for aneuploidy detection. The method of the invention is not only suitable for gene copy number variation, population screening and conventional prenatal diagnosis of aneuploidy detection, which is further equally suitable for non-invasive prenatal diagnosis. The method of the invention has advantages of rapidness, precision, high sensitivity, high throughput, low cost and no pollution.

Description

technical field [0001] The invention relates to the field of gene copy number variation detection, in particular to a method for detecting gene copy number variation by using similar sequences combined with high-resolution melting curve analysis. Background technique [0002] Copy number variations (Copy Number Variations, CNVs) were first discovered 70 years ago in the study of the Drosophila Bar gene, and later considered to be a ubiquitous phenomenon in animal and plant genomes. It refers to the deletion or deletion of larger segments of genomic DNA. duplication phenomenon. Some copy number variations belong to the category of polymorphism and do not affect the phenotype of animals and plants, while some copy number variations affect gene expression by disrupting gene sequences and changing gene content, thereby causing phenotypic differences and phenotypic adaptations. can cause disease. It is conservatively estimated that at least 10% of the human genome sequence has ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q2600/156C12Q2527/107C12Q1/68C12Q1/6827C12Q1/6883C12Q2537/16C12Q1/6886C12Q2563/107
Inventor 郭奇伟周裕林左正宏
Owner 郭奇伟
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