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A method for simultaneous identification of embryonic chromosomal structural abnormalities and disease-causing gene carrier status

A technology for chromosomal abnormalities and disease-causing genes, applied in biochemical equipment and methods, genomics, microbial measurement/testing, etc. The effects of eliminating potential reproductive barriers, improving health levels, and avoiding technical barriers

Active Publication Date: 2022-03-25
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

[0006] However, these common clinical PGT-SR detection methods have common limitations: they can only detect chromosomal aneuploidy in embryos, but cannot detect chromosomal structural abnormalities in embryos, that is, they cannot further compare chromosomal structural abnormalities in euploid embryos Normal two types of embryos are distinguished
[0007] In recent years, there have been some technical reports on the screening of chromosomal structural abnormalities at home and abroad, but these methods have great limitations: first, they can only detect chromosomal structural abnormalities and chromosomal aneuploidy in embryos separately, and it takes many Second, it needs to be designed individually according to the position of the breakpoint of the patient's chromosome. The technology is relatively complex, time-consuming, and not universal, so it is difficult to promote and apply it in reproductive centers.
[0008] Due to the high incidence of monogenic diseases and chromosomal structural abnormalities in the population, there are a certain proportion of patients who carry these two types of genetic diseases at the same time in the population, and these patients basically have no probands of monogenic diseases. Due to the detection technology So far, there is no report on detection techniques related to assisted reproductive therapy for this group of patients

Method used

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  • A method for simultaneous identification of embryonic chromosomal structural abnormalities and disease-causing gene carrier status
  • A method for simultaneous identification of embryonic chromosomal structural abnormalities and disease-causing gene carrier status
  • A method for simultaneous identification of embryonic chromosomal structural abnormalities and disease-causing gene carrier status

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0139] Example 1: Blastocyst culture, biopsy and whole genome amplification method

[0140] After the patient undergoes ovulation induction, intracytoplasmic sperm injection, and blastocyst biopsy, the biopsy cells are placed in a PCR tube containing alkaline denaturing buffer (KOH) for cell lysis, and then the whole genome is amplified, and the blastocyst Culture and biopsy were carried out by clinical routine methods. Genomic DNA from the pg level was amplified to at least the ng level for subsequent experiments. Use fluorescent PCR and capillary electrophoresis to test the DNA amplification efficiency. For details, see figure 1 .

[0141] (1) Single-cell whole-genome amplification by MDA method

[0142] 1. Prepare two 0.2mL imported EP tubes, add 2.5μL and 4μL water respectively, and use them as volume control tubes for later use.

[0143] 2. Centrifuge the sample for 1 min, check the liquid volume, compare it with the control tube, take a photo and save it, and record ...

Embodiment 2

[0211] Example 2: Building a detection analysis model

[0212] Perform genome-wide SNP typing on family samples, define information SNP selection criteria, perform haplotype linkage analysis on information SNP genetic markers, and distinguish different haplotypes of disease-causing gene alleles and homologous chromosomes in patients through haplotype analysis , through linkage analysis to clarify the haplotypes of carrying disease-causing genes and non-carrying disease-causing genes, clarifying the haplotypes of structurally abnormal chromosomes and structurally normal chromosomes, and constructing an embryo detection and analysis model.

[0213] Substitute the SNP data of the whole genome of the embryo to be tested into the detection and analysis model, analyze the embryo chromosome aneuploidy through the SNP allele frequency (BAllele Frequency), determine the haplotype of the embryo through the detection and analysis model, and analyze whether the embryo carries the pathogeni...

Embodiment 3

[0229] Example 3: Embryo detection and pregnancy outcome follow-up

[0230] After the analysis of the detection analysis model, the embryo is diagnosed:

[0231] (1) For embryos that only carry the haplotype of the disease-causing gene of one of the couple, the embryo is diagnosed as carrying the disease-causing gene;

[0232] (2) For the embryos carrying the haplotype of the disease-causing gene of both spouses at the same time, it is diagnosed as an abnormal diseased embryo;

[0233] (3) For embryos that do not carry the haplotype of the disease-causing gene of the couple, it is diagnosed as a normal embryo of the disease-causing gene;

[0234] (4) For embryos that do not carry the abnormal haplotype of the couple's chromosome structure, they are diagnosed as embryos with normal chromosome structure;

[0235] (5) For embryos carrying abnormal chromosome structure haplotypes of the couple, it is diagnosed as embryos with abnormal chromosome structure;

[0236] (6) For embr...

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Abstract

A method for simultaneously identifying abnormal chromosome structure and carrier status of disease-causing genes in embryos. The invention belongs to the fields of genetic diagnosis and human assisted reproduction. Based on the haplotype analysis model of the whole genome of the family, the present invention constructs a comprehensive general technical method. This method can detect not only the pathogenic gene of the embryo, but also the chromosome of the embryo through only one detection. Aneuploidy and chromosomal structural abnormalities provide guidance for the precise diagnosis of embryos in patients with genetic diseases, which has important clinical significance.

Description

[0001] This application claims the priority of the Chinese patent application submitted to the China Patent Office on May 22, 2020, with the application number 202010443663.6, and the title of the invention is "A Method for Simultaneously Identifying the Abnormal Chromosomal Structure of Embryos and the Carrying State of Disease-causing Genes". The entire contents are incorporated by reference in this application. technical field [0002] The invention belongs to the fields of gene diagnosis and human assisted reproduction, and in particular relates to a method for simultaneously identifying the abnormal chromosome balance structure of an embryo and the carrying state of a disease-causing gene. Background technique [0003] Monogenic genetic disease refers to a disease in which a single or single allele mutation leads to abnormal body structure development or physiological function, and generally follows the Mendelian law of inheritance. At present, there are more than 10,00...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20C12Q1/6888
CPCG16B20/20C12Q1/6888C12Q2600/156C12Q2600/172
Inventor 张硕雷彩霞孙晓溪徐丛剑
Owner THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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