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Primer compositions, products and methods for detecting embryos carrying at-risk chromosomes

A primer composition and chromosome technology, applied in the directions of biochemical equipment and methods, recombinant DNA technology, and microbial determination/inspection, can solve the problem of inability to distinguish risky chromosomes by linkage relationship, and achieve the expansion of the applicable range and reliable effect. Effect

Active Publication Date: 2021-12-14
PEKING JABREHOO MED TECH CO LTD
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AI Technical Summary

Problems solved by technology

The disadvantage is that when the subject does not have a complete family, the risk chromosomes cannot be distinguished by linkage relationship

Method used

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  • Primer compositions, products and methods for detecting embryos carrying at-risk chromosomes
  • Primer compositions, products and methods for detecting embryos carrying at-risk chromosomes
  • Primer compositions, products and methods for detecting embryos carrying at-risk chromosomes

Examples

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Embodiment 1

[0052] Carry out targeted capture and high-throughput sequencing of the SNP sites in the NF1 CDS region of the family's disease-causing gene and within 2M upstream and downstream, and obtain the information of the disease-causing sites in the man, woman, and embryo (the type of disease-causing site needs to be in the high-throughput within the detection range of sequencing or next-generation sequencing) and SNP genotype. The embryo carrying the disease-causing locus is selected as the proband, and according to the SNP genotype of the target region, "the male partner is homozygous and the female partner is heterozygous" is selected as the effective SNP site for the female partner, and "the female partner is homozygous and the male partner is heterozygous" is selected as the effective SNP site for the male partner. According to the genotypes of each effective SNP site of the male, female and disease-causing embryos, the haplotype is constructed to distinguish the risk chromosomes...

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PUM

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Abstract

The invention provides a primer composition, product and method for detecting embryos carrying risk chromosomes. The primer composition includes primers for the CDS region of the disease-causing gene NF1 and the SNP sites within 2M upstream and downstream of the disease-causing gene NF1. It can detect the disease-causing site in the embryo while detecting the SNP site, and construct the haplotype through the linkage relationship between the family and the disease-causing site in the embryo to perform single-gene genetics detection before embryo implantation. Haplotype analysis and direct sequencing of disease-causing loci are performed on the man, woman, and embryos. The haplotype corresponding to the embryo carrying the disease-causing locus is a risk chromosome, and the other one is a normal chromosome, which expands the embryo implantation. The scope of application of pre-single-gene genetic testing can be applied to cases where complete families cannot be obtained due to de novo mutations or other reasons.

Description

【Technical field】 [0001] The invention relates to the technical field of embryo transfer detection, in particular to a primer composition, product and method for detecting embryos carrying risk chromosomes. 【Background technique】 [0002] A single gene disease is a disease caused by one or a pair of allele mutations, and its inheritance mode and recurrence risk conform to Mendel's law. There are currently no effective treatments for most monogenic disorders. Preimplantation Genetic Testing for Monogenic (PGT-M) conducts genetic testing on embryos and selects normal embryos for transfer to avoid harm to pregnant women and their families due to selective abortion. [0003] Direct detection of pathogenic loci in embryos may lead to misdiagnosis due to allele drop-out (ADO). Using single-nucleotide polymorphism (single-nucleotide polymorphism, SNP) linkage analysis combined with variant site detection can avoid ADO during single-cell expansion of embryonic blastocyst cells. S...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 杨蕾蕾费嘉张丽娜乔国枝
Owner PEKING JABREHOO MED TECH CO LTD
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