Application progress of single cell sequencing technology in diagnosis of genetic and reproductive
10.3760/cma.j.cn121382-20210803-00216
- VernacularTitle:单细胞测序技术在遗传生殖诊断中的应用进展
- Author:
Wenjing CHENG
1
;
Xiaobin WANG
;
Rong QIANG
;
Lin WANG
Author Information
1. 西北妇女儿童医院医学遗传中心，西安 710061
- Keywords:
Single cell sequencing;
Transcriptome;
Preimplantation;
Genetic disease
- From:
International Journal of Biomedical Engineering
2022;45(2):186-191
- CountryChina
- Language:Chinese
-
Abstract:
The technique of prenatal diagnosis before embryo implantation has been greatly developed in assisted reproduction, especially for the people with abnormal genetic material to provide the technical possibility of eugenics and eugenics. As an emerging sequencing technology, single-cell sequencing can analyze the genome and transcriptome of cells from the level of a single cell, and reflect the heterogeneity between cells, thus helping to reveal the mechanism of the occurrence and development of diseases. Through prenatal diagnosis before embryo implantation and high-throughput sequencing of single cells obtained from embryo biopsy, euploidy of embryonic chromosomes can be effectively detected, and SNPs and chromosomal copy number variation, insertion, deletion and other variations can also be better detected. It can conduct the comprehensive detection and research of genomic polymorphism and mutation of individual and other species. In this paper, the single-cell sequencing technology and relevant methods was introduced, and the application scenarios of single-cell sequencing in genetic reproduction diagnosis were summarized. The applications of the technology in the field of genetic reproduction were described, and the future directions of the technology were discussed.
