| CNV-seq联合STR连锁分析在流产物检测中的临床应用价值 |
| 投稿时间：2024-11-07 修订日期：2024-12-12 点此下载全文 |
| 引用本文：王冰,化春晓,刘启蒙,谭笠君,刘盼,任献杰,乔小改,蔡大军.CNV-seq联合STR连锁分析在流产物检测中的临床应用价值[J].医学研究杂志,2025,54(5):78-82, 87 |
| DOI：
10.11969/j.issn.1673-548X.2025.05.015 |
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| 基金项目:河南省医学科技攻关计划项目(LHGJ20220482) |
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| 中文摘要:目的 通过对236例流产物进行低深度全基因组拷贝数变异检测(copy number variation sequencing,CNV-seq)及短串联重复序列(short tandem repeats, STR)连锁分析检测,探讨其在流产物染色体异常检测中的临床应用价值。方法 采用CNV-seq和STR连锁分析对2021年3月～2024年8月于郑州大学第二附属医院产前诊断中心就诊的236例自然流产患者的流产物样本进行检测,确定具有临床意义的染色体异常并对其进行分析。结果 6例流产物因严重母源污染退出研究,剩余230例流产物染色体异常的阳性率为62.61%(144/230),其中染色体非整倍体110例(69.44%),多倍体7例(4.86%),拷贝数变异27例(18.75%)。染色体非整倍体中以常染色体三体最为常见,其中16-三体最常见,其次是21-三体。高龄产妇染色体异常率显著高于低龄产妇,早期流产组染色体异常发生率显著高于晚期流产组,均以染色体非整倍体异常为主。结论 染色体非整倍体是导致自然流产最常见的原因,孕妇的妊娠年龄与胎儿常染色体三体的发生密切相关。CNV-seq联合STR连锁分析对于流产物的染色体分析高效可靠,可作为流产物遗传学分析的常规方法。 |
| 中文关键词:低深度全基因组拷贝数变异检测 短串联重复序列连锁分析 流产物 拷贝数变异 染色体异常 |
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| Copy Number Variation Sequencing Combined with STR Linkage Analysis in Clinical Application Value of Abortion Tissues |
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| Abstract:Objective Copy number variation sequencing (CNV-seq) and Short tandem repeats (STR) chain analysis were performed on 236 cases of abortion tissues to evaluate their clinical application value in analyzing chromosomal abnormalities in abortion tissues.Methods The abortion tissues of 236 patients with spontaneous abortion who visited the Prenatal Diagnosis Center of the Second Affiliated Hospital of Zhengzhou University from March 2021 to August 2024 were collected. CNV-seq and STR linkage analysis were performed to determine chromosomal abnormalities with clinical significance in the abortion tissues, and the test results were analyzed.Results Of 236 abortion tissues, 6 cases were excluded as serious maternal cell contamination; 114 cases showed abnormal chromosomal results; and the remaining 86 were normal, with a positive detection rate of 62.61% (144/230). Abnormal results consisted of 110 aneuploidies (69.44%), 7 polyploids (4.86%), and 27 copy number variants (18.75%). Most of the aneuploidies were autosomal trisomies, and trisomy 16 was the most frequent trisomy, followed by trisomy 21. The frequency of chromosomal abnormalities in the advanced maternal age group was significantly higher than that in the younger maternal age group, and the frequency of chromosomal abnormalities in the early abortion group was significantly higher than that in the late abortion group, mainly reflected in the aneuploidy cases.ConclusionChromosomal aneuploidies were the most common cause of spontaneous abortion; maternal age is closely related to the occurrence of fetal autosomal trisomy. Our study suggests that CNV-seq and STR linkage analysis are efficient and reliable technologies in the chromosome analysis of abortion tissues and could be used as a routine selection method for the genetic analysis of abortion tissues. |
| keywords:Copy number variation sequencing Short tandem repeats chain analysis Abortion tissues Copy number variants Chromosomal abnormalities |
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