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Method for identifying CNV microdeletion and microduplication syndrome diseased embryo and normal embryo

A syndrome and micro-repetition technology, applied in biochemical equipment and methods, microbial measurement/testing, genomics, etc., can solve the problem of inability to accurately detect CNV micro-deletions and micro-duplications

Pending Publication Date: 2022-05-13
THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Nevertheless, the above-mentioned PGT genetic detection technology still has certain limitations. Due to the large demand for the detection sample size, and the embryo cannot provide enough sample size for the above-mentioned detection, the above-mentioned PGT technology generally can only detect more than 3-5Mb CNVs, small fragments of CNVs, microdeletions and microduplications cannot be accurately detected
For these couples with known CNV syndrome, there is currently no very effective detection technology that can accurately determine whether the embryo to be implanted is a CNV syndrome-affected embryo or a normal embryo at the embryonic stage

Method used

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  • Method for identifying CNV microdeletion and microduplication syndrome diseased embryo and normal embryo
  • Method for identifying CNV microdeletion and microduplication syndrome diseased embryo and normal embryo
  • Method for identifying CNV microdeletion and microduplication syndrome diseased embryo and normal embryo

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0036] Example 1: Reference sample collection of the patient and the patient's parents

[0037] Three patients with CNV micro-deletion micro-repetitive syndrome who will undergo assisted reproduction were recruited from Shanghai Ji'ai Genetics and Infertility Diagnosis and Treatment Center of Fudan University Affiliated Obstetrics and Gynecology Hospital. Each family is required to sign written informed consent, and the research plan is approved by the Human Subject Ethics Committee of Shanghai Jiai Genetics and Infertility Diagnosis and Treatment Center of Fudan University Obstetrics and Gynecology Hospital.

[0038] From September 2020 to June 2021, all families have a history of adverse pregnancies, and one couple with CNV micro-deletion micro-repetitive syndrome is referred to as "patient" and the other is referred to as "patient spouse" later, and the family chart is indicated Figure 1 。 At the same time as the recruitment, each patient couple and the patient's relatives (sa...

Embodiment 2

[0133] Example 2: in vitro fertilization, blastocyst biopsy and whole genome amplification (WGA)

[0134] 1. In vitro fertilization

[0135] In vitro fertilization (IVF) is performed in recruited families, where in vitro fertilization methods follow conventional methods in the art; maternal / paternal age, phenotype, ovulation outcome, number of fertilized eggs, and the number of blastocysts ultimately used for biopsy in these families are listed in Table 2. Through the above in vitro fertilization, a total of 16 blastocysts were obtained from 3 families for subsequent biopsy and haplotype analysis studies.

[0136] Table 2. Basic family information and in vitro fertilization situation of no. 1-2 family

[0137]

[0138] 2. Blastocyst biopsy and whole genome amplification

[0139]Take the above embryos in the blastocyst stage and remove 3 to 10 cells from the nourishing ectoderm on day 5 or 6 of embryonic development. Place the biopsy cells in a PCR tube filled with alkaline dena...

Embodiment 3

[0212] Example 3: SNP genotypic typing and haplotypes (haplotypes) analysis

[0213] 1. SNP genotype detection

[0214]SNP genotype detection using Illumina SNP microarrays. Each chip contains nearly 300,000 or 700,000 SNPs, which can fully cover 23 pairs of human chromosomes. The 12 samples obtained by blastocyst biopsy and whole genome amplification in Example 2 were grouped according to family, and 3 whole genome amplification samples of the parent couple and the patient's relatives were grouped into a group, and the microarray SNP genotype detection and analysis were carried out, and the grouping situation was shown in Table 3. The specific experimental methods are carried out with reference to the instructions and will not be repeated here.

[0215] Table 3. Experimental grouping of SNP arrays of families 1-2

[0216]

[0217] Note: F stands for female and M stands for male

[0218] 2. Embryo chromosome aneuploidy detection

[0219] The principle and process of SNP gene ch...

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Abstract

The invention relates to a method for identifying a CNV microdeletion and microduplication syndrome diseased embryo and a normal embryo. The invention belongs to the field of genetic diagnosis and human assisted reproduction, and more particularly relates to a pre-implantation embryo detection technology (PGT). According to the method disclosed by the invention, family haplotype linkage analysis is carried out on a patient suffering from the CNV microdeletion and microduplication syndrome, a partner of the patient, an embryo after in-vitro insemination and chromosomes of relatives of the patient or fetal tissues suffering from the CNV microdeletion and microduplication syndrome; the method can quickly, simply, conveniently and accurately distinguish the diseased embryo carrying CNV from the normal embryo, and simultaneously screen the chromosome aneuploid of the embryo, thereby improving the clinical pregnancy rate, realizing the timely detection of the diseased embryo and the transplanted non-diseased embryo before embryo transplantation, preventing the birth of defective children, and improving the survival rate of the children. And the genetic transmission of the CNV microdeletion and microduplication syndrome disease to the next generation is timely blocked. The development and progress of a human assisted reproduction technology are promoted to a certain extent.

Description

Technical field [0001] The present invention belongs to the field of CNV micro-deletion micro-repetitive syndrome disease diagnosis and human assisted reproduction, in particular, involving preimplantation genetic detection technology (PGT), is a core family haplotype linkage analysis method capable of identifying whether the embryo inherits the genetic information of the chromosome where the CNV is located. Background [0002] Copy number variation (CNV) generally refers to the deletion or duplication of genomic fragments greater than 1 kb in length, mainly manifested as structural variation at the sub-microscopic level of chromosomes. About 12% of the regions of the human genome are prone to CNV. In the normal healthy population, CNVs account for a total of 18% of the genome, the vast majority of which are benign CNVs, and other CNVs can be pathogenic and uncertain CNVs. CNV can also lead to a change in the dose of the gene, or interrupt the gene, causing the gene to be destro...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883G16B20/30
CPCC12Q1/6883G16B20/30C12Q2600/156
Inventor 张硕雷彩霞孙晓溪徐丛剑
Owner THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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