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Method for identifying embryos carrying chromosomal balanced translocation and normal embryos

A technology of chromosomal translocation and balanced translocation, which is applied in genomics, instrumentation, computing, etc., can solve problems such as time-consuming, inapplicable Robertsonian translocation, and inability to judge homologous recombination at the breakpoint region. The method is simple, short-term effect

Active Publication Date: 2017-05-10
上海集爱遗传与不育诊疗中心 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the above methods all have the following defects: 1) The technical process of the method is very complicated and takes a long time; 2) The homologous recombination situation in the breakpoint region cannot be judged; 3) It is not suitable for carriers of Robertsonian translocations
It can be seen that there is still a lack of assisted reproductive technology that can be accurately and quickly applied to clinics to identify embryos with balanced chromosomal translocations (reciprocal translocations and Robertsonian translocations) in the prior art

Method used

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  • Method for identifying embryos carrying chromosomal balanced translocation and normal embryos
  • Method for identifying embryos carrying chromosomal balanced translocation and normal embryos
  • Method for identifying embryos carrying chromosomal balanced translocation and normal embryos

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0047] Example 1: Collection of Reference Samples from Patients and Parents of Patients

[0048] Nine balanced chromosome translocation carrier families who will receive assisted reproduction were recruited, and the selected ones were all from Shanghai Jiai Institute of Genetics and Assisted Reproduction. Each family was required to sign a written informed consent, and the research protocol was approved by the Human Subjects Ethics Committee of Fudan University Obstetrics and Gynecology Hospital.

[0049] From June 2014 to March 2016, all 9 families had a history of recurrent spontaneous abortion or chromosomal abnormalities. One of the couples carrying balanced chromosome translocations is referred to as "patient" in the following text, and the other is referred to as "patient". Spouse”, please see figure 1 . At the same time of recruitment, 10ml of peripheral blood was drawn from each patient couple and relatives of patients (parents of patients are preferred, other relati...

Embodiment 2

[0070] Example 2: Blastocyst Biopsy and Whole Genome Amplification (WGA)

[0071] 1. In vitro fertilization

[0072] In vitro fertilization (IVF) was carried out on 9 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, a total of 44 blastocysts were obtained from 9 families for subsequent biopsy and haplotype analysis.

[0073] Table 2. Basic information and in vitro fertilization of families No. 1-9

[0074]

[0075]

[0076] 2. Blastocyst biopsy and whole genome amplification

[0077] 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 PCR tubes filled w...

Embodiment 3

[0092] Example 3: SNP Genotyping and Haplotypes Analysis

[0093] 1. SNP genotype detection

[0094] 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 44 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 is carried out with reference to the instructions, and will not be repeated here.

[0095] Table 3. SNP array experimental grouping of families 1-9

[0096]

[0097] Note: F stands for female, M stands for male

[0098] 2. Haplotype analysis

[0099] After obtaining all the SNPs information detected by the m...

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Abstract

The invention relates to the field of genetic diagnosis and human assisted reproduction, and more particularly relates to an embryo pre-implantation genetic diagnosis technique (PGD). According to the method provided by the invention, for patients suffering from chromosomal balanced translocation (including reciprocal translocation and Robertson translocation) and mates thereof, family haplotype linkage analysis is performed on the chromosomes of the embryos obtained by in vitro fertilization and the relatives of the translocation carrier, the embryos with chromosomal balanced translocation and the embryos with normal chromosomes can be rapidly, simply and accurately distinguished, and at the same time, the chromosome copy number variation of the embryo is screened, so that the clinical pregnancy rate is improved, the genetic transmission of the chromosomal balanced translocation to the next generation is timely blocked before embryo implantation, and thus the development and progress of the human assisted reproductive 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 diagnosis (PGD), which is a haplotype linkage analysis method capable of identifying whether an embryo carries the genetic information of parental balanced translocation chromosomes. Background technique [0002] A balanced chromosome translocation is a common chromosomal structural variation that is a chromosomal abnormality caused by the mis-splicing of broken parts of different chromosomes. The incidence rate is about 0.19% in the normal population, and the incidence rate is about 5% in patients with repeated miscarriages or repeated IVF implantation failures. Although balanced translocation carriers generally have no abnormal phenotypes, as many as 19%-77% of the gametes produced by the meiosis of their primordial germ cells are unbalanced gametes, which is related to the breaking point and occurrence susceptibility of ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18
CPCG16B20/00
Inventor 张硕张月萍卢大儒
Owner 上海集爱遗传与不育诊疗中心
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