Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018
[Application of next generation sequencing for the detection of chromosomal aneuploidies and copy number variations in abortus tissues].
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Chen Junkun, Hu Liqin, Yang Jingzhen, Liu Ping
Аннотация
OBJECTIVE: To detect numerical chromosomal aberrations and copy number variations (CNVs) in abortus tissue samples with a benchtop semiconductor sequencing platform (SSP).
METHODS: One hundred and forty patients with early spontaneous abortions at between 7 and 16 weeks were selected. Following DNA extraction, library preparation, high-throughput sequencing was carried out.
RESULTS: Chromosomal anomalies were detected in 82 cases (58.57%), which included 67 aneuploidies and 15 CNVs. Trisomies 16, 21, 22, and X/Y were the most common. A significant difference was found in the anomaly rates between women <35 and ≥35 years old (P< 0.01).
CONCLUSION: The SSP platform can detect chromosomal aneuploidies and CNVs among abortus tissues. Numerical chromosomal aberration is the main cause of early spontaneous abortion, and advance maternal age is a high risk factor for chromosomal abnormality.
METHODS: One hundred and forty patients with early spontaneous abortions at between 7 and 16 weeks were selected. Following DNA extraction, library preparation, high-throughput sequencing was carried out.
RESULTS: Chromosomal anomalies were detected in 82 cases (58.57%), which included 67 aneuploidies and 15 CNVs. Trisomies 16, 21, 22, and X/Y were the most common. A significant difference was found in the anomaly rates between women <35 and ≥35 years old (P< 0.01).
CONCLUSION: The SSP platform can detect chromosomal aneuploidies and CNVs among abortus tissues. Numerical chromosomal aberration is the main cause of early spontaneous abortion, and advance maternal age is a high risk factor for chromosomal abnormality.