Primer composition, product and method for detecting chromosome small fragment abnormal haplotype

A primer composition, small fragment technology, applied in biochemical equipment and methods, DNA/RNA fragments, recombinant DNA technology, etc., can solve the problem of high cost, can not meet the needs of detecting embryo chromosome microdeletion/microduplication, microarray Problems with high technical and technical difficulty to achieve the effect of low cost

Inactive Publication Date: 2021-06-22
PEKING JABREHOO MED TECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Microarray technology is technically difficult, lacks expertise, and costs
At present, the resolution of PGT-A and PGT-SR technologies to detect abnormal chromosome copy number of embryos is about 4-10Mb, which cannot meet the needs of detecting microdeletions / microduplications of embryonic chromosomes

Method used

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  • Primer composition, product and method for detecting chromosome small fragment abnormal haplotype
  • Primer composition, product and method for detecting chromosome small fragment abnormal haplotype
  • Primer composition, product and method for detecting chromosome small fragment abnormal haplotype

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0111] 2 cases of embryo dup Xq22.2 (102740001_103300000) chromosome small fragment preimplantation detection.

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Abstract

The invention provides a primer composition, a product and a method for detecting an abnormal haplotype of a small fragment of a chromosome. The primer composition comprises a primer for specifically amplifying a small fragment abnormal region of the Xq22.2 chromosome and a primer for specifically amplifying SNP sites in upstream and downstream 2M of the Xq22.2. The method can be used for analyzing chromosome small fragment abnormity of parent sources, determining risk chromosomes of chromosome abnormal fragments according to male, female and offspring or male, female and parents carrying the abnormal fragments according to a family relationship and haplotype analysis principle, and analyzing the embryo haplotype to interpret the abnormal genetic condition of the chromosome small fragment of the embryo. The application range of single gene genetics detection before embryo implantation is expanded, and experiments prove that the effect is reliable.

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 abnormal haplotypes of small chromosome fragments. 【Background technique】 [0002] There are more than 200 kinds of chromosomal diseases known to humans. Most chromosomal disorders are caused by abnormalities in the number of chromosomes, and Down syndrome is the most common. Another part of chromosomal diseases is caused by the deletion or duplication of a segment of chromosome (chromosomal copy number variation, copy number variations, CNVs), collectively referred to as chromosomal microdeletion / microduplication syndrome. Chromosomal microdeletion / microduplication mainly refers to the abnormality of chromosomal fragments less than 5Mb in size, and chromosomal copy number variation plays an important role in the diagnosis of clinical symptoms and identification of fetal chromosomal diseases. The clinica...

Claims

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Application Information

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Patent Type & AuthorityApplications(China)
IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11
CPCC12Q1/686C12Q1/6883C12Q2600/156C12Q2537/143
Inventor邢丽贤费嘉张丽娜乔国枝
OwnerPEKING JABREHOO MED TECH CO LTD