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An embryo screening technology, applied in biochemical equipment and methods, microbiological measurement/testing, chemical library, etc., can solve problems such as complicated operation, abnormal number of chromosomes, inability to accurately detect copy number variation, etc.
Pending Publication Date: 2019-12-31
MGI TECH CO LTD
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[0005] Microarray Comparative Genomic Hybridization (Array Comparative Genomic Hybridization, array-CGH) technology, single nucleotide polymorphism microarray (Single Nucleotide Polymorphism-based Array, SNParray) technology is expensive, and can only detect abnormal chromosome number, cannot be used Preimplantation monogenic genetic disease detection
Based on target region probe capture sequencing and haplotype linkage analysis technology can only detect monogenic genetic diseases in PGD, but cannot detect chromosomal abnormalities at the same time, and the detection cycle is long, the operation is complicated, and the cost is high
Although karyomapping technology can detect single-gene genetic diseases and chromosomal abnormalities at the same time in PGD, it can only detect chromosomal aneuploidy and cannot accurately detect Copy Number Variation (CNV). It is a microarray chip with low throughput and high cost
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Embodiment 1
[0093] Embodiment 1, primer design
[0094] β-thalassemia is mainly caused by mutations in the β-globin gene (HBB gene).
[0095] 20 sets of primers were designed, and the amplified sequences of the 20 sets of primers covered the entire HBB gene (ie, the part from the start codon to the stop codon in the genome). The sequences of the 20 sets of primers are shown in Table 1. HBB-USP-01 and HBB-DSP-01 form specific primer set 1, HBB-USP-02 and HBB-DSP-02 form specific primer set 2, and so on, ..., HBB-USP-20 and HBB-DSP- 20 constitute the specific primer set. The specific primer set was used to obtain all the SNP information in the HBB gene, and the SNP sites related to β-thalassemia were named as the pathogenic SNP sites.
[0096] Table 1
[0097]
[0098] In Table 1, all USP primers are upstream primers, and all DSP primers are downstream primers.
[0099] Randomly select 78 SNP sites with a minimum allele frequency (MAF) greater than 0.35 between the 2M region upstrea...
Embodiment 2
[0106] Example 2. Preimplantation chromosomal abnormality screening and β-thalassemia detection
[0107] Embryo samples: 9 pre-implantation embryos in IVF (E1 to E9; embryos at the blastomere stage, in practice embryos can also be at the blastocyst stage) from the same father and mother. Perform steps 2-11 individually for each embryo sample.
[0108] Human blood samples: whole blood of the father, whole blood of the mother, whole blood of the proband in the family (the proband here is the first affected child of the same father and mother). Perform Step 1 and Steps 3-11 individually for each human blood sample.
[0109] For the workflow diagram of steps 1-11, see image 3 .
[0110]1. Take 5ml of human blood sample, use the QIAGEN DNeasy Blood&Tissue kit and operate according to the instructions to obtain genomic DNA.
[0111] 2. Take a single cell from a blastomere stage embryo sample, and use the QIAGEN REPLI-g Single Cell Kit to operate according to the instructions to...
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Abstract
The present invention discloses a genetic abnormality screening method for embryos. The present invention discloses a device. The device comprises a detection device, a genetic disease screening device and a chromosome abnormality screening device; the detection device is used for acquiring target area data of an embryo father, an embryo mother, a propositus and an embryo, and full genome data ofthe embryo; the target area data are genotypes of SNP loci in genetic disease related genes and peripheral regions; the genetic disease screening device is used for screening genetic diseases: effective SNP loci are selected according to target area data of a father and target area data of a mother; haplotypes are established according to genotypes of the effective SNP loci of the embryo father, embryo mother and propositus, and then genetic diseases are screened by performing haplotype linkage analysis on the embryo; and the chromosome abnormality screening device is used for screening chromosome abnormality and judging whether the embryo has chromosome abnormality according to the whole genome data of the embryo. The genetic abnormality screening method for embryos has great applicationand popularization value for genetic screening before embryo implantation.
Description
technical field [0001] The invention relates to a method for screening embryos for gene abnormality. Background technique [0002] Preimplantation Genetic Screening (PGS) refers to the detection of chromosomal abnormalities in embryos cultured in vitro using In Vitro Fertilization-embryo Transfer (IVF) technology. Some studies have shown that about 50% of the embryos formed by in vitro fertilization have chromosomal abnormalities, which may lead to early embryo loss, spontaneous abortion and stillbirth, which is one of the important reasons that limit the success of IVF. The number and structural abnormalities are detected, so as to select embryos with normal chromosomes for implantation in the uterus, in order to improve the implantation success rate of patients. Pre-implantation genetic diagnosis (Preimplantation Genetic Diagnosis, PGD) refers to the diagnosis of single-gene disease in embryos cultured in vitro using in vitro fertilization-embryo transfer (In Vitro Fertil...
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