| 基于SNP-array技术的自然流产遗传学病因分析及相关基因筛选 |
| 投稿时间：2025-05-19 修订日期：2025-06-22 点此下载全文 |
| 引用本文：刘沛,王丽霞,黄伟博,魏洁,薛淑媛.基于SNP-array技术的自然流产遗传学病因分析及相关基因筛选[J].医学研究杂志,2025,54(11):116-121, 158 |
| DOI：
10.11969/j.issn.1673-548X.2025.11.021 |
| 摘要点击次数: 31 |
| 全文下载次数: 13 |
|
| 基金项目:新疆维吾尔自治区科技创新团队(天山创新团队)项目(2022TSYCTD0016)；新疆地区基于母胎医学的先天性结构异常产前筛查、诊断及体系建设项目(2023B03018-1)；乌鲁木齐市卫生健康委员会科技计划项目(202209) |
|
| 中文摘要:目的 应用单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP-array)技术探讨自然流产胚胎染色体异常特征及其影响因素,为降低出生缺陷、指导患者治疗及下次妊娠提供依据。方法 收集2019年1月~2024年12月乌鲁木齐市妇幼保健院收治的自然流产患者的流产组织1258例,通过SNP-array技术检测,分析自然流产胚胎染色体异常情况,结合患者年龄、流产孕周、流产次数进行统计学分析,采用多因素Logistic回归分析评价自然流产的影响因素,并对拷贝数变异(copy number variation, CNV)相关基因进行功能富集分析。结果 染色体异常检出率为53.42%(672/1258),其中数目异常占比90.18%(606/672),以16三体(17.3%)和X单体(15.5%)为主；结构异常占9.82%(66/672),包括CNV及杂合性缺失。基因本体论(Gene Ontology,GO)功能富集分析结果显示,异常基因主要参与跨膜转运复合体和病毒应答；京都基因与基因组百科全书(Kyoto Encyclopedia of Genes and Genomes, KEGG)信号通路富集分析结果显示,异常基因主要富集于细胞因子-细胞因子受体相互作用。多因素Logistic回归分析结果显示,年龄≥35岁显著增加胚胎染色体异常风险(OR=1.98,95% CI:1.45~2.74),流产孕周≥12周的胚胎染色体异常风险较孕早期显著降低(OR=0.25,95% CI:0.20~0.32)。结论 胚胎染色体异常数目异常和结构异常是自然流产的主要遗传学病因,其发生与高龄及早期妊娠密切相关,SNP-array技术可精准识别异常类型及关键调控通路,为遗传咨询提供分子生物学依据。 |
| 中文关键词:自然流产 染色体异常 富集分析 影响因素 单核苷酸多态性微阵列分析 |
| |
| Genetic Etiology Analysis of Spontaneous Abortion and Related Gene Screening Based on SNP-array Technology. |
|
|
| Abstract:Objective To provide a basis for reducing birth defects, guiding the treatment of patients and the next pregnancy, the single nucleotide polymorphism array (SNP-array) technology was applied to explore the characteristics of chromosomal abnormalities in embryos with spontaneous abortion and their influencing factors. Methods The abortion tissues of 1258 patients with spontaneous abortion in Urumqi Maternal and Child Health Hospital from January 2019 to December 2024 were collected. SNP-array detection was used to analyze the chromosomal abnormalities of spontaneous abortion embryos, and statistical analysis was made based on the age of patients, gestational weeks of abortion and number of abortions. Multivariate logistic regression model was used to analyze the influencing factors of spontaneous abortion, and functional enrichment analysis of genes related to pathogenic copy number variations (CNV) was performed. Results The detection rate of chromosome abnormalities was 53.42% (672/1258), and the number of abnormalities accounted for 90.18% (606/672), mainly 16 trisomy (17.3%) and X monomer (15.5%). Structural abnormalities, including CNV and heterozygosity loss, accounted for 9.82% (66/672). The results of Gene Ontology (GO) functional enrichment analysis showed that the abnormal genes were mainly involved in transmembrane transport complex and viral reaction, and the results of Kyoto Encyclopedia of Genes and Genomes (KEGG) signaling pathway enrichment analysis showed that abnormal genes were mainly enriched in cytokine-cytokine receptor interaction. Multivariate logistic regression analysis showed that age ≥35 years significantly increased the risk of embryo chromosome abnormality (OR=1.98,95%CI:1.45-2.74), and the risk of chromosomal abnormalities in embryos with a miscarriage gestational age of ≥12 weeks was significantly lower than that in the first trimester (OR=0.25,95%CI:0.20-0.32). Conclusion Chromosomal abnormalities in embryos, including numerical and structural abnormalities, are the main genetic causes of spontaneous abortion. Their occurrence is closely related to advanced age and early pregnancy. SNP-array technology can accurately identify abnormal types and key regulatory pathways, providing a molecular biological basis for genetic counseling. |
| keywords:Spontaneous abortion Chromosomal abnormalities Enrichment analysis Influencing factors Single nucleotide polymorphism array |
| 查看全文 查看/发表评论 下载PDF阅读器 |
|
|
|
