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Fetal concentration quantification method and device and fetal genotyping method and device

A genotyping and genotyping technology, applied in the fields of genomics, instruments, medical simulation, etc., can solve the problem of cumbersome fetal genotyping process, and achieve the effect of easy expansion

Pending Publication Date: 2020-04-10
BEIJING KEXUN BIOTECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] The main purpose of the present invention is to provide a method and device for fetal concentration quantification and a method and device for fetal genotyping, so as to solve the problem that the prior art is cumbersome for fetal genotyping and needs to construct parental haplotype information

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  • Fetal concentration quantification method and device and fetal genotyping method and device
  • Fetal concentration quantification method and device and fetal genotyping method and device
  • Fetal concentration quantification method and device and fetal genotyping method and device

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Embodiment 1

[0031] As mentioned in the background art, the existing methods are either to detect known pathogenic sites and have poor clinical scalability; or they also need to construct parental haplotype information. This process is complicated, time-consuming, laborious, and extremely restrictive. Its clinical application. To improve this situation, this embodiment provides a method for quantifying fetal concentration, which includes:

[0032] Step S101, acquiring sequencing data containing multiple SNP sites;

[0033] Step S102: Count the mutation frequency at each SNP site in the sequencing data, classify the SNP sites with a mutation frequency of 1% to 25% as the first type of frequency, and classify the SNP sites with a mutation frequency of 75% to 99% Classified as the second type of frequency, the second type of frequency = 1-mutation frequency;

[0034] Step S103: Calculate the median or average value of the data set formed by the frequency of the first type and the frequency of the ...

Embodiment 2

[0046] In a preferred embodiment of the present application, a method for fetal genotyping is also provided. The method includes: obtaining the sequencing data of plasma free DNA and leukocyte genomic DNA derived from pregnant women; and comparing the two sets of sequencing data with Reference genome comparison to obtain variant SNP sites; calculate the frequency of variant genotypes at each variant SNP site and fetal concentration, and determine the genotype of pregnant women at each variant SNP site based on the sequencing data of leukocyte genomic DNA, and infer The genotype of the fetus; wherein the fetal concentration is quantified according to any of the above methods.

[0047] In the above-mentioned fetal genotyping method, the maternal genotype is obtained by using the sequencing data of leukocyte genomic DNA to accurately reflect the pregnant woman’s own genetic background, and the fetal concentration is obtained by combining the free DNA information of the pregnant woman...

Embodiment 3

[0055] In this embodiment, a detailed method for quantifying fetal concentration is provided, which is specifically as follows:

[0056] Based on Mendel's law of inheritance, the theory of fetal genotype judgment is shown in Table 2 (for an individual, the mutation frequency in the case of a heterozygous mutation at a certain locus is 0.5, and the mutation frequency in the case of a homozygous mutation is 1). When the mother's genotype is certain, the difference in fetal genotype is reflected in the frequency of mutant genotype a in the plasma free DNA of pregnant women is half of the fetal concentration. It can be seen that the fetal concentration is crucial to the judgment of the fetal genotype, especially in the fetal concentration. When it is lower, the impact is more obvious.

[0057] Table 2. Theories of fetal genotype judgment based on Mendel's law of inheritance

[0058]

[0059] Note: A is the reference genotype, and a is the mutant genotype.

[0060] (1) Selection of SNP si...

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Abstract

The invention provides a fetal concentration quantification method and device and a fetal genotyping method and device. The fetal concentration quantification method comprises the following steps: acquiring sequencing data containing a plurality of SNP sites; recording the mutation frequencies of all SNP sites in the sequencing data, and classifying the SNP sites with the mutation frequency of 1%-25% into a first type of frequency, and classifying the SNP sites with the mutation frequency of 75%-99% into a second type of frequency, wherein the second type of frequency is equal to 1-mutation frequency; calculating a median or a mean value of a data set formed by the two frequencies, wherein the median or the mean value is twice of the median or the mean value to obtain the fetal concentration. Based on differential SNP sites of fetuses and maternal bodies, the fetal concentrations of the male fetus and the female fetus are accurately quantified, and then whether the fetus inherits mutation from the mother or the father under the background of mother mutation or not can be accurately detected in combination with the maternal background provided by the leukocyte sample of the pregnantwoman, so the problem that fetal genotyping is difficult to perform under the background of maternal mutation is solved.

Description

Technical field [0001] The present invention relates to the technical field of high-throughput sequencing, in particular to a method and device for quantifying fetal concentration and a method and device for fetal genotyping. Background technique [0002] The report on the prevention and treatment of birth defects in China released in 2012 showed that the total incidence of birth defects in my country was 5.6%, with about 900,000 new cases of new children every year, which brought serious economic and spiritual burdens to children, families and society. About 15-25% of birth defects are related to chromosomal abnormalities. Therefore, accurate and effective fetal genotyping methods will be able to provide strong evidence for the diagnosis of these birth defects and greatly reduce the incidence of birth defects. [0003] The fetal samples currently used in prenatal diagnosis methods for fetal genotyping are mostly obtained by invasive methods, such as amniocentesis, villus sampling ...

Claims

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Application Information

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IPC IPC(8): G16B20/20G16H50/50
CPCG16B20/20G16H50/50
Inventor 白灵单广宇高权权张红程岩岩徐冰刘运超方楠伍启熹王建伟刘倩唐宇
Owner BEIJING KEXUN BIOTECH CO LTD
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