Application of high-throughput whole genome sequencing and STR typing for the analysis of chorea villus tissue samples from spontaneous abortion
10.3760/cma.j.issn.1003-9406.2019.12.005
- VernacularTitle: 高通量全基因组测序结合STR分型检测技术在流产物遗传学诊断中的应用
- Author:
Jianlin ZHANG
1
;
Shanshan WANG
;
Yimei YANG
;
Junrong ZHANG
;
Xiaoyan WU
;
Chen CHEN
;
Feng YAO
;
Yuquan ZHANG
Author Information
1. Department of Gynecology and Obstetrics, the Hospital Affiliated to Nantong University, Nantong, Jiangsu 226001, China
- Publication Type:Journal Article
- Keywords:
Whole generation sequencing;
Spontaneous abortion;
Short tandem repeat;
Copy number variation
- From:
Chinese Journal of Medical Genetics
2019;36(12):1171-1174
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To apply high-throughput whole genome sequencing (WGS) and short tandem repeat (STR) typing to detect aneuploidies, heteroploidies and copy number variations(CNVs) in spontaneous abortic tissues.
Methods:Chorionic villus samples from 145 patients with spontaneous abortion were subjected to detection of aneuploidies, heteroploidies and copy number variations by WGS and STR typing.
Results:All testing was successful and the rate of chromosomal abnormalities among the patients was 22.07%. Among these, there were 11 trisomies, 3 monosomies, 2 triploidies, 5 autosomal mosaicisms, 4 sex chromosomal mosaicisms, 7 structural abnormalities (including 1 mosaicism). In 89 cases, there were 130 CNVs of uncertain significance, 47 likely benign CNVs, and 2 loss of one copy of pathogenic AR gene. One sample contained 6 fragment duplications and deletions. Only 24 samples had no abnormal finding.
Conclusion:The most important reason for spontaneous abortions is embryonic chromosomal abnormality. Combined STR typing and WGS is both comprehensive and fast, and may become a major means for the detection of chorionic villi tissue from spontaneous abortions.
