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Device for detecting gene mutation and kit for genotyping pregnant women and fetuses

一种基因型、试剂盒的技术，应用在生物信息领域，能够解决父亲来源遗传信息依赖限制、增加测序成本、全基因组测序测序深度要求高等问题

Active Publication Date: 2019-08-13
ANNOROAD GENE TECH BEIJING +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Sequencing multiple samples would undoubtedly add significant sequencing costs, and reliance on genetic information from the paternal source may also be limited
At the same time, the above methods also have the problems of requiring whole genome sequencing, high requirements for sequencing depth, and only being able to judge mutations related to paternal origin

Method used

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  • Device for detecting gene mutation and kit for genotyping pregnant women and fetuses
  • Device for detecting gene mutation and kit for genotyping pregnant women and fetuses
  • Device for detecting gene mutation and kit for genotyping pregnant women and fetuses

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0187] Example 1 A method for detecting gene mutations

[0188] Experiment 1: Sample acquisition and cell-free DNA extraction

[0189] (1) Place the isolated peripheral blood of pregnant women in a centrifuge, centrifuge at a speed of 1600g for 10 minutes, and then absorb the plasma.

[0190] (2)(2) Obtain the isolated peripheral plasma of pregnant women, and use the kit QIAamp DNA Blood Mini Kit (Qiagen, Germany, catlog#51106) to extract the free DNA in the plasma. The method is the blood and body fluid processing method in the kit .

[0191] Experiment 2: Capture enrichment and library construction

[0192] 2.1 End repair of cell-free DNA in plasma of pregnant women

[0193] Purpose of the experiment: Since the cell-free DNA extracted from the plasma of pregnant women is double-stranded DNA fragments, these fragments are either blunt-ended or contain 3' or 5' overhanging ends. This step phosphorylates the overhangs to blunt ends by T4 DNA polymerase, E. coli DNA polymera...

Embodiment 2

[0315] Example 2 is an example of non-invasive monogenic disease diagnosis in fetuses with osteogenesis imperfecta

[0316] Sample information: 28-year-old pregnant woman, 3 times of pregnancy and 0 deliveries, regular menstruation, 5-6 days of menstrual period, 29 days of menstrual cycle. Last menstrual period 2012-03-27, expected date of delivery 2013-01-04. Naturally conceived, no history of fever, rash, etc. during early pregnancy, and no history of exposure to radiation poisons. Toxoplasma gondii, rubella, giant cell, and herpes simplex virus were all negative at 13 weeks of pregnancy, B-ultrasonography at 14+ weeks of pregnancy measured the width of fetal neck thickness zona pellucida (NT) was 0.14cm, and serological screening at 17+ weeks of pregnancy showed the risk of trisomy 21< 1:50000, the risk of trisomy 18 <1:50000. B-ultrasound at the health care hospital at 26+ weeks of pregnancy revealed abnormal development of the femur and tibia of the fetus, and re-examin...

Embodiment 3

[0321] Embodiment 3 is the verification of the false tetraploid typing model of the present invention

[0322]For the above-mentioned venous blood samples of pregnant women, the false tetrad typing model of the present invention is used for detection and analysis, and at the same time, the somatic cell detection method of "fetal umbilical cord blood sample + maternal peripheral blood sample" is used for verification to evaluate the method of the present invention. Validity of pseudo-tetraploid typing models.

[0323] Combining the results of somatic cell sequencing of pregnant women and the results of somatic cell sequencing of umbilical cord blood samples, compared with the results of pseudo-tetraploid typing, the results of pseudo-tetraploid typing are shown in Table 5, which is compared with the somatic cell sequencing of pregnant women in the prior art The accuracy rate of the results compared with the somatic cell sequencing results of umbilical cord blood samples is show...

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Abstract

The invention discloses a device for detecting gene mutation and a kit for typing genotypes of pregnant women and fetuses. The device includes: a detection module, a comparison module, a target mixed genotype determination module and a mutation site screening module. Through the detection module and the comparison module, the SNP sites in the maternal and fetal genome information that are different from the reference genome are obtained, and the mixed genotype of the pseudo-tetraploid composed of the pregnant woman and the fetus is determined by using the target mixed genotype determination module The genotypes of the mother and fetus at each SNP locus can be obtained by typing, so that all possible gene mutations of the fetus can be detected by only using the peripheral blood sample of the pregnant woman. The device does not need to separately sequence the samples from the father or the mother, and realizes the detection of all possible gene mutations of the fetus by using only the sequencing data of the peripheral blood of pregnant women, providing convenient and diversified services for fetal genetic testing .

Description

technical field [0001] The invention relates to the field of biological information, in particular to a device for detecting gene mutations and a kit for typing genotypes of pregnant women and fetuses. Background technique [0002] Prenatal diagnosis, also known as intrauterine diagnosis, refers to the use of various methods to predict whether the fetus has congenital diseases (including deformities and genetic diseases) before birth, and provides a scientific basis for whether pregnancy can continue. Among them, the prenatal diagnosis of genetic diseases is mainly aimed at chromosomal diseases and Mendelian inherited diseases. Mendelian genetic diseases refer to diseases transmitted according to Mendelian inheritance, usually caused by a single gene mutation controlled by a pair of alleles, involving a single nucleotide to the entire gene change, so it is also called single-gene disease (single-gene defects) ). As of June 25, 2013, the OMIM (online mendelian inheritance i...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6869C12Q1/6883C12Q2600/156C12Q2535/122C12Q1/68G16B20/20G16B20/10Y02A90/10G16H50/20C12Q1/6827G16B30/10G16B30/00G16B20/00
Inventor 杜洋彭胜斌惠峰张晗玄兆伶李大为梁峻彬陈重建
Owner ANNOROAD GENE TECH BEIJING
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