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Method for identifying chromosome insertion translocation carried embryo and normal embryo

A chromosome and embryo technology, applied in the field of genetic diagnosis and human assisted reproduction, can solve the problems of inaccurate detection of chromosome structure variation, etc., achieve the effect of eliminating fertility problems, simple application, and solving fertility problems

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

AI Technical Summary

Problems solved by technology

But despite this, these commonly used PGT detection techniques in clinical practice can only detect the copy number variant monosomy or trisomy of the embryo, and so far there is no report on the identification of chromosome insertional translocation carrier embryos and normal embryos, that is, Existing technologies cannot accurately detect this balanced chromosomal structural variation, and cannot further diagnose whether the embryos of patients with insertional translocations are chromosomal insertional translocation carriers and normal embryos. In theory, all euploid embryos with normal chromosome numbers have 50% probability of being carried by a chromosomal insertional translocation

Method used

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  • Method for identifying chromosome insertion translocation carried embryo and normal embryo
  • Method for identifying chromosome insertion translocation carried embryo and normal embryo
  • Method for identifying chromosome insertion translocation carried embryo and normal embryo

Examples

Experimental program
Comparison scheme
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Embodiment 1

[0050] Example 1: Collection of Reference Samples from Patients and Parents of Patients

[0051] We recruited 3 chromosomal balanced insertional translocation carrier families who will undergo assisted reproduction, and the selected ones are all from the Shanghai Jiai Genetics and Infertility Diagnosis and Treatment Center of the Obstetrics and Gynecology Hospital Affiliated to Fudan University. Each family was required to sign a written informed consent, and the research protocol was approved by the Human Subjects Ethics Committee of Shanghai Jiai Genetics and Infertility Clinic, Fudan University Obstetrics and Gynecology Hospital.

[0052] From March 2020 to June 2021, all three families had a history of recurrent spontaneous abortion or a fetus with chromosomal abnormalities. patient's spouse". At the same time of recruitment, each patient couple and patient relatives (the patient's relatives can be selected from the patient's parents, children, siblings, or patient couple...

Embodiment 2

[0163] Example 2: In Vitro Fertilization, Blastocyst Biopsy and Whole Genome Amplification (WGA)

[0164] 1. In vitro fertilization

[0165] In vitro fertilization (IVF) was carried out on the recruited families, and the in vitro fertilization method followed the conventional methods in the field; the maternal / paternal age, phenotype, ovulation results, number of fertilized eggs and the number of blastocysts finally used for biopsy in these families were listed in Table 2. Through the above in vitro fertilization, a total of 31 blastocysts were obtained from the three families for subsequent biopsy and haplotype analysis. Family No. 1 underwent two ovulation induction cycles, and families No. 2 and No. 3 underwent one ovulation induction cycle.

[0166] Table 2. Basic information and in vitro fertilization of families No. 1-3

[0167]

[0168] 1 The number of obtained oocytes and MII, the number of fertilized embryos, the number of D3 embryos, and the number of D5 / D6 bl...

Embodiment 3

[0241] Example 3: SNP Genotyping and Haplotypes Analysis

[0242] 1. SNP genotype detection

[0243] Using Illumina SNP microarray for SNP genotype detection, each chip contains nearly 700,000 SNPs, which can fully cover 23 pairs of human chromosomes. The 31 samples obtained from blastocyst biopsy and whole-genome amplification in Example 2 were grouped according to family, and were grouped with 3 whole-genome amplification samples of the patient couple and relatives of the family, respectively, for microarray SNP gene analysis. Type detection and analysis, the grouping situation is shown in Table 3. The specific experimental method of the gene chip is the same as that described in Example 1, and will not be repeated here.

[0244] Table 3. SNP array experimental grouping of families 1-3

[0245]

[0246] Note: F stands for female, M stands for male

[0247] 2. Detection of embryo chromosome aneuploidy and insertion fragment copy number variation

[0248] The principle...

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Abstract

The invention relates to a method for identifying a chromosome insertion translocation carried embryo and a normal embryo, belongs to the field of genetic diagnosis and human assisted reproduction, and particularly relates to an embryo pre-implantation detection technology (PGT). According to the method disclosed by the invention, family haplotype linkage analysis is carried out on a patient with chromosome balance insertion translocation and a partner thereof, an embryo after in-vitro insemination, relatives of a translocation carrier or fetal tissues with abnormal insertion fragments or chromosomes of an embryo with abnormal insertion fragments; the method can quickly, simply and accurately distinguish embryos with chromosomes inserted and translocated from embryos with normal chromosomes and screen chromosome aneuploidy of the embryos at the same time, so that diseased embryos and non-diseased embryos are detected in time before embryo transplantation, and defective children are prevented from birth; and the genetic transmission from chromosome insertion translocation to the next generation is blocked in time before embryo transplantation. The development and progress of a human assisted reproduction technology are promoted to a certain extent.

Description

technical field [0001] The invention belongs to the fields of gene diagnosis and human assisted reproduction, and specifically relates to preimplantation detection technology (PGT), which is a core family haplotype linkage analysis method capable of identifying whether an embryo carries genetic information of parental insertional translocation chromosomes . Background technique [0002] Insertion is a type of chromosomal translocation. Chromosomal insertion, also known as insertional translocation, is a type of chromosomal structural variation. Common insertional translocations usually involve three breakpoints, where two breakpoints occur between which a fragment of chromosome is released, which then inserts at the location of the third breakpoint, a simple unidirectional chromosomal insertion Insertion of a segment of one chromosome into another chromosome. The chromosome that carries the insertion, called the recipient, has one breakpoint; the chromosome that provides t...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6869
CPCC12Q1/6883C12Q1/6869C12Q2600/156C12Q2535/122C12Q2531/113
Inventor 张硕孙晓溪徐丛剑
Owner THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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