首页|高通量测序鉴定HBG2和HBZ为复发性流产合并胰岛素抵抗的关键基因

高通量测序鉴定HBG2和HBZ为复发性流产合并胰岛素抵抗的关键基因

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目的 构建复发性流产合并胰岛素抵抗孕妇绒毛组织的测序文库进行差异表达谱及功能富集分析,鉴定筛选关键基因,为阐明复发性流产合并胰岛素抵抗的发生机制提供新见解.方法 2023年12月至2024年5月于中山大学孙逸仙纪念医院计划生育门诊收集4例复发性流产合并胰岛素抵抗孕妇(实验组)和4例人工流产孕妇(对照组)的绒毛组织样本.应用高通量测序技术构建测序文库,筛选差异表达基因,进行基因本体、基因集富集分析、基因组百科全书分析及蛋白质互作网络,经Cytoscape筛选出关键基因后qRT-PCR进行实验验证.结果 高通量测序共筛选64个差异表达基因,其中8个上调基因,56个下调基因.GO富集分析显示生物过程富集于蛋白质水解,细胞组分位于质膜,分子功能作用于与血红素结合.GSEA富集于HALLMARK_E2F_TARGETS基因集,上调基因KEGG富集于慢性高血糖损害神经元功能通路,下调基因KEGG富集于氧运输通路,经Cytoscape MCODE鉴定HBG2和HBZ为关键基因,qRT-PCR验证其在实验组中显著下调.结论 HBG2和HBZ为复发性流产合并胰岛素抵抗潜在生物信息学标志物,同时,氧运输通路可能在其发生发展中起关键作用.
High-throughput sequencing identifies HBG2 and HBZ as key genes for insulin-resistant recurrent miscarriage
Objective A sequencing library of chorionic villus tissue from pregnant women with recurrent spontane-ous abortions combined with insulin resistance was constructed for differential expression profiling and functional enrichment analysis,and key genes were identified and screened to elucidate the mechanism of recurrent spontaneous abortions combined with insulin resistance.Methods Chorionic tissue samples from 4 pregnant women with recurrent spontaneous abortions combined with insulin resistance(experimental group)and 4 pregnant women with induced abortion(control group)were collected in the family planning clinic of Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University from December 2023 to May 2024.High-throughput sequencing technology was applied to construct sequencing libraries,screen differentially ex-pressed genes,perform gene ontology,gene set enrichment analysis,genome encyclopedia analysis and protein interactions network,and qRT-PCR for experimental validation after screening key genes by Cytoscape.Results A total of 64 differentially expressed genes were screened by high-throughput sequencing,including 8 up-regulated genes and 56 down-regulated genes.GO enrichment analysis showed that the bioprocesses were enriched in protein hydrolysis,the cellular components were lo-cated in the plasma membrane,and the molecular functions acted in binding to heme.GSEA was enriched in the HALLMARK_E2F_TARGETS gene set,and the up-regulated gene KEGG was enriched in the Chronic Hyperglycemia Im-pairment neuronal function pathway,and down-regulated gene KEGG is enriched in oxygen transport pathway.HBG2 and HBZ were identified as key genes by Cytoscape MCODE,and qRT-PCR experiments verified that they were significantly down-regulated in the experimental group.Conclusion HBG2 and HBZ are potential bioinformatics markers for recurrent spontaneous abortions combined with insulin resistance,while the oxygen transport pathway may play a key role in the de-velopment.

recurrent spontaneous abortions combined with insulin resistancehigh-throughput sequencingchori-onic tissue

杨静、杨丽、白诗雨、易金玲、陈慧

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新疆医科大学第五附属医院妇科,新疆乌鲁木齐 830011

新疆医科大学第一附属医院生殖中心,新疆乌鲁木齐 830011

中山大学孙逸仙纪念医院生殖中心,广东 广州 510120

复发性流产合并胰岛素抵抗 高通量测序 绒毛组织

2024

中国优生与遗传杂志
中国优生科学协会

中国优生与遗传杂志

CSTPCD
影响因子:0.527
ISSN:1006-9534
年,卷(期):2024.32(11)