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Method and device for simultaneously determining fetal nucleic acid content and aneuploidy of chromosome

A nucleic acid content and chromosome technology, applied in the field of biomedicine, can solve problems such as the lack of simultaneous screening methods for aneuploidy and single gene diseases

Active Publication Date: 2014-12-24
TIANJIN MEDICAL LAB BGI +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There is also a lack of simultaneous screening methods for aneuploidy and single gene diseases in early pregnancy (before 16 weeks of gestation)

Method used

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  • Method and device for simultaneously determining fetal nucleic acid content and aneuploidy of chromosome
  • Method and device for simultaneously determining fetal nucleic acid content and aneuploidy of chromosome
  • Method and device for simultaneously determining fetal nucleic acid content and aneuploidy of chromosome

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0036] Example 1: Determination of Fetal Nucleic Acid Content

[0037] figure 1 It is a flow chart for detecting fetal aneuploidy and maternal SNP genotype based on a pregnant woman's peripheral blood sample, and judging the carrier status of single-gene disease-related mutations in pregnant women. figure 1 The process can be used to predict the risk of fetal aneuploidy and single-gene disease-causing genes in early pregnancy. In the process method, the peripheral blood of pregnant women is collected in the early pregnancy (8-12 weeks of pregnancy), and the separation of plasma and blood cells is realized through two-step centrifugation. The extraction of plasma cell-free DNA is realized by micro-DNA extraction technology. Use the remaining blood cells after plasma separation to directly extract the DNA of pregnant women, or extract the DNA of pregnant women's white blood cells by enriching white blood cells. Through the construction of a high-throughput sequencing library ...

Embodiment 2

[0047] Example 2: Fetal SNP genotype and single gene disease risk judgment, fetal chromosomal variation detection

[0048] According to the above fetal DNA content, select the corresponding low-coverage sequencing multiplier and the corresponding bioinformatics analysis method. Whole-genome low-coverage sequencing was performed on plasma DNA-derived sequencing library libraries that were not captured in the target region, and fetal aneuploidy was determined. For plasma samples with fetal DNA content above 4%, the amount of sequencing data needs to be 0.18Gbp, for samples with fetal DNA content of 3-4%, the amount of sequencing data needs to reach 0.54Gbp, and the amount of sequencing data for samples with fetal DNA content less than 3% is not analyzed .

[0049] According to the selected sequencing platform, the Illumina Hiseq2000 used here extracts DNA from the white blood cells of pregnant women, breaks it into small fragments of DNA, and then adds sequencing adapters with ...

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Abstract

The invention provides a method for determining the fetal nucleic acid content of a body liquid sample of a pregnant woman, a method for simultaneously determining the fetal nucleic acid content of the body liquid sample of the pregnant woman and variation information of fetal chromosome, a non-diagnosis method for detecting fetal nucleic acid mutation in the body liquid sample of the pregnant woman and respective devices. The method for determining the fetal nucleic acid content of the body liquid sample of the pregnant woman comprises the steps of obtaining the body liquid sample of the pregnant woman; extracting a first DNA and a second DNA from the sample, wherein the first DNA is a mixture of the DNA of the mother and the DNA of a fetus, and the second DNA is a genome DNA of the mother; sequencing the first DNA of at least one part and the second DNA of at least one part so as to obtain a first reading section and a second reading section which comprise a plurality of polymorphic sites; respectively comparing the first reading section and the second reading section with a reference sequence, and screening out a polymorphic site, which has one genotype in the second DNA and has two genotypes in the first DNA, from the multiple polymorphic sites according to an obtained comparison result; determining the fetal nucleic acid content of the sample according to the quantity of the reading sections, which support the screened polymorphic site, in the first reading section in the comparison result.

Description

technical field [0001] The invention belongs to the field of biomedicine, and in particular relates to a method for determining the content of fetal nucleic acid in a pregnant woman sample, a method for simultaneously determining the content of fetal nucleic acid and chromosome variation in a sample of pregnant woman, a method for detecting the variation of fetal nucleic acid in a body fluid sample of a pregnant woman, and various devices. Background technique [0002] Birth defects are structural, functional or metabolic abnormalities that occur in a baby before birth. At present, more than 7,000 genetic or semi-hereditary birth defect diseases have been discovered in the world. According to the 2001 US MARCH OF DMES (MOD) Foundation report, the top 5 severe genetic or semi-genetic birth defects are cardiovascular defects, neural tube defects, and hemoglobin diseases (thalassemia and sickle cell anemia) , Down syndrome, and glucose-6-phosphatase dehydrogenase (G6PD) defici...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12M1/00C12M1/34
CPCC12Q1/6869G16B30/00C12Q2535/122
Inventor 袁媛刘涛曹飞郭俊甫王垚燊吴仁花阿叁杨玲易鑫
Owner TIANJIN MEDICAL LAB BGI
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