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Method for detecting translocation fragment monomer or trisome in latent balance translocation carrier embryo

A technique for balancing translocations and carriers, applied in the field of preimplantation genetics testing, which can solve the problems of overlapping fluorescent signals, signal splitting, and affecting the accuracy of results

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

Since only a small number of probes can be used in FISH experiments, FISH technology has very obvious limitations. Generally, it can only detect translocation fragments in embryos, but it is difficult to detect chromosomal aneuploidy for all 23 pairs of chromosomes. There is still a high risk of miscarriage after embryo transfer, and it cannot obviously solve the patient's fertility problem
In addition, the limitations of the FISH probe itself, such as fluorescent signal overlap, signal splitting, etc., may also affect the accuracy of the results, resulting in misdiagnosis or missed diagnosis
Due to these serious defects, FISH technology is rarely used in clinical PGT at present.

Method used

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  • Method for detecting translocation fragment monomer or trisome in latent balance translocation carrier embryo
  • Method for detecting translocation fragment monomer or trisome in latent balance translocation carrier embryo
  • Method for detecting translocation fragment monomer or trisome in latent balance translocation carrier embryo

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0045] Example 1: Collection of Reference Samples from Patients and Parents of Patients

[0046] Four families with cryptic balanced translocation carriers who will undergo assisted reproduction were recruited, and the selected ones were all from the Shanghai Jiai Genetic 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.

[0047] From January 2018 to December 2020, 4 families had a history of recurrent spontaneous abortion or a fetus with chromosomal abnormalities. Referred to as "Patient Spouse". At the same time of recruitment, each patient couple and patient relatives were selected (the patient relatives can be selected from the patient's parents, children, brothers...

Embodiment 2

[0168] Example 2: In Vitro Fertilization, Blastocyst Biopsy and Whole Genome Amplification (WGA)

[0169] 1. In vitro fertilization

[0170] 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 3. Through the above in vitro fertilization, a total of 30 blastocysts were obtained from the four families for subsequent biopsy and haplotype analysis. Family No. 1 underwent two ovulation induction cycles, and families No. 2-4 each underwent one ovulation induction cycle.

[0171] Table 3. Basic information and in vitro fertilization of families No. 1-4

[0172]

[0173]

[0174] 1 The number of obtained oocytes and MII, the number of fertilized embryos, the number of D3 embryos, and the number of ...

Embodiment 3

[0248] Example 3: SNP Genotyping and Haplotypes Analysis

[0249] 1. SNP genotype detection

[0250] 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 30 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 4. The specific experimental method of the gene chip is the same as that described in Example 1, and will not be repeated here.

[0251] Table 4. SNP array experimental grouping of families 1-4

[0252]

[0253] Note: F stands for female, M stands for male

[0254] 2. Detection of embryo chromosome aneuploidy and large fragment copy number variation

[0255] The principle and...

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Abstract

The invention belongs to the field of genetic diagnosis and human assisted reproduction, and particularly relates to a genetic detection technology (PGT) before embryo implantation. According to the method disclosed by the invention, family haplotype linkage analysis is carried out on a patient with the occult balance translocation of the chromosome, a partner of the patient, an embryo after in-vitro insemination, relatives of a translocation carrier or fetal tissues with abnormal translocation fragments, so that a translocation fragment monomer or trisome in the embryo of the occult balance translocation carrier can be simply, conveniently and accurately detected; the method has important clinical significance on embryo detection and birth defect prevention, and promotes the development and progress of human assisted reproduction technology to a certain extent.

Description

technical field [0001] The invention belongs to the field of chromosome genetic diagnosis and human assisted reproduction, in particular, it relates to pre-implantation genetic testing technology (PGT), which is a method capable of identifying whether the occult translocation fragment of chromosome in the embryo is monosomy or trisomy Haplotype linkage analysis method. Background technique [0002] Chromosomal balanced translocation refers to the change of chromosome structure caused by a break of two chromosomes at the same time and the occurrence of wrong splicing exchange. Balanced translocation can be divided into macroscopic balanced translocation and occult balanced translocation according to the size of the translocation fragment , Balanced translocations that are visible to the naked eye generally have relatively large translocation fragments, and the diagnosis can be confirmed by ordinary cell karyotype analysis; while occult balanced translocations generally have s...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883G16B20/20G16B20/30
CPCC12Q1/6883G16B20/20G16B20/30
Inventor 张硕雷彩霞孙晓溪徐丛剑
Owner THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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