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Method for discriminating inversion carrying state of embryo chromosome

A chromosome and embryo technology, applied in the field of genetic diagnosis and human assisted reproduction, can solve the problem of not being able to accurately distinguish between embryos carrying chromosome inversions and completely normal embryos

Active Publication Date: 2019-06-21
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

But despite this, these traditional PGT techniques can only detect copy number variations in embryos
[0004] So far, there are no reports on the identification of embryos carrying chromosomal inversions, and the existing technology is not able to accurately distinguish chromosomal inversion-carrying embryos from completely normal embryos

Method used

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  • Method for discriminating inversion carrying state of embryo chromosome
  • Method for discriminating inversion carrying state of embryo chromosome
  • Method for discriminating inversion carrying state of embryo chromosome

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0064] Example 1: Collection of Reference Samples from Patients and Parents of Patients

[0065] Two cases of chromosomal inversion carrier families who will undergo assisted reproduction were recruited, and the selected candidates were from the Obstetrics and Gynecology Hospital Affiliated to Fudan University and Shanghai Jiai Genetics and Infertility Diagnosis and Treatment Center. Each family was required to sign a written informed consent, and the research protocol was approved by the Human Subjects Ethics Committee of the Obstetrics and Gynecology Hospital Affiliated to Fudan University.

[0066] From June 2017 to June 2018, these two families had a history of recurrent spontaneous abortion or primary infertility. One of the couples carrying chromosomal inversion is referred to as "patient" and the other as "patient's spouse" in the following text , please refer to the family map carrying chromosomal inversion figure 1 . At the same time of recruitment, 10ml of peripher...

Embodiment 2

[0087] Example 2: Blastocyst Biopsy and Whole Genome Amplification (WGA)

[0088] 1. In vitro fertilization

[0089] In vitro fertilization (IVF) was carried out on the 2 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 blastocysts finally used for biopsy in these families The quantities are listed in Table 2. Through the above in vitro fertilization, 2 families obtained a total of 6 blastocysts through multiple ovulation induction for subsequent biopsy and haplotype analysis.

[0090] Table 2. Basic information and in-vitro fertilization of families No. 1-2

[0091]

[0092] 2. Blastocyst biopsy and whole genome amplification

[0093] The above-mentioned embryos at the blastocyst stage were taken, and 3 to 10 cells were removed from the trophectoderm on the 5th or 6th day of embryonic development. Biopsied cells were placed in ...

Embodiment 3

[0108] Example 3: SNP Genotyping and Haplotypes Analysis

[0109] 1. SNP genotype detection

[0110] SNP genotyping was performed using Illumina human Karyomap-12V1.0 microarray. Each Karyomap-12 chip contains nearly 300,000 SNPs, which can fully cover 23 pairs of human chromosomes. The 6 samples obtained from blastocyst biopsy and whole-genome amplification in Example 2 were grouped according to family, and were grouped with 2 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 is carried out with reference to the instructions, and will not be repeated here.

[0111] Table 3. SNP array experimental grouping of families 1-2

[0112]

[0113] Note: F stands for female, M stands for male

[0114] 2. Haplotype analysis

[0115] After obtaining all the SNPs information detected by the mi...

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Abstract

The invention belongs to the field of heredity diagnosis and mankind assisted reproduction, and more particularly, relates to preimplantation genetic testing (PGT). According to the method of the invention, pedigree haplotype linkage analysis is performed on a patient with chromosome inversion, a spouse thereof, an embryo after external fertilization, and the chromosome of an inversion carrier relative, thereby quickly, simply and accurately discriminating the chromosome inversion carrying type embryo and the chromosome normal type embryo. The chromosome normal type embryo is preferably transplanted. The method realizes heredity transmission blocking of chromosome inversion to a next generation before embryo transplantation in time. The method has an important meaning for promoting sound child rearing of population, reducing birth defects and improving mankind reproduction health. Furthermore the method promotes development of mankind assisted reproduction technology 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 a preimplantation detection technology (PGT), which is a haplotype linkage analysis method capable of identifying whether an embryo carries parental inversion chromosomes. Background technique [0002] Chromosomal inversion refers to the reconnection of chromosomal fragments between the two breakpoints after two breaks, including intra-arm inversion and inter-arm inversion, and there is no loss of genetic material in inversion. The incidence of chromosomal inversions in Chinese patients with infertility and adverse pregnancy history is about 0.96-1.10%. Although chromosomal inversion carriers generally have no abnormal phenotype, their primordial germ cell meiosis will produce a large number of abnormal gametes. Homologous chromosome pairing forms an inversion ring, which will produce six different types of gametes, one of which is a comp...

Claims

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Application Information

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IPC IPC(8): G16B20/00G16B25/00
Inventor 张硕雷彩霞张月萍孙晓溪徐丛剑
Owner THE OBSTETRICS & GYNECOLOGY HOSPITAL OF FUDAN UNIV
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