Method and device for simultaneously determining fetal haplotype and aneuploidy of chromosome

An aneuploidy and haplotype technology, applied in the field of biomedicine, can solve the problem of lack of simultaneous screening methods for aneuploidy and monogenic diseases, and achieve the effect of comprehensive birth defects and comprehensive prevention

Active Publication Date: 2014-12-24
TIANJIN MEDICAL LAB BGI +2
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  • Abstract
  • Description
  • Claims
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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 haplotype and aneuploidy of chromosome
  • Method and device for simultaneously determining fetal haplotype and aneuploidy of chromosome

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Embodiment

[0031] figure 1 A flow chart illustrating a method for non-invasive prenatal detection of fetal single-gene disease-causing gene carrier status and aneuploidy, where the content of single-gene disease detection includes pathogenic mutations inherited from parents. In the 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 by centrifugation. The extraction of plasma cell-free DNA is realized by micro-DNA extraction technology. Through the high-depth sequencing of the target region of plasma cell-free DNA, the non-invasive detection of fetal single gene and aneuploidy can be realized simultaneously.

[0032] After the DNA is extracted from the plasma, the target region is captured. The probe set includes corresponding key region capture probes. This region includes the key gene region of the target single-gene disease pathogenic gene, the SNP site region that can b...

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Abstract

The invention provides a method and a device for simultaneously determining a fetal haplotype and the aneuploidy of chromosome. The method comprises the steps of (1) respectively extracting a first DNA, a second DNA and a third DNA from a body fluid sample of a pregnant woman and a sample of the father of a fetus, wherein the first DNA is a mixture of the DNA of the mother and the DNA of the fetus, the second DNA is a genome DNA of the mother, and the third DNA is the DNA of the father; (2) simultaneously or respectively sequencing the first DNA, the second DNA and the third DNA of at least one part so as to correspondingly obtain a first reading section, a second reading section and a third reading section; (3) respectively comparing the first reading section, the second reading section and the third reading section with a reference sequence, and performing (a) or (b) according to an obtained comparison result to screen out a specific polymorphic site; (4) determining the fetal nucleic acid content of the body fluid sample of the pregnant woman according to the quantity of the reading sections, which support the screened specific polymorphic site, in the comparison result of the first reading section; (5) simultaneously determining the fetal haplotype and the aneuploidy of the chromosome according to the comparison result and the fetal nucleic acid content.

Description

technical field [0001] The invention belongs to the field of biomedicine, and particularly relates to a method and a device for simultaneously determining fetal haplotype and chromosome aneuploidy. 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) deficiency. These 5 diseases account for about 25% of all birth defects [U.S. Department of Health And Human Services, Centers for Disease Control and Prevention. Centers for Birth Defects Research and Prevention [R]. Atlanta: CDC. 2003; Hsu L YF. Pre...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12M1/34
CPCB01L7/52C12Q1/6888C12Q2600/156
Inventor 袁媛刘涛王垚燊吴仁花阿叁杨玲易鑫
Owner TIANJIN MEDICAL LAB BGI
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