PDF(Pubmed)
Abstract：
The collagen type I alpha 1 (COL1A1, OMIM #120,150) gene, encoding the alpha-1 chain of type I collagen (UniProt #P02452), plays a key role in life-homeostasis due to its remarkable involvement in collagen synthesis. It is a promising candidate gene implicated in the pathogenesis of cervical insufficiency (CI). This study aimed to identify genetic variations within the COL1A1 gene that contribute to the development of CI. Polymerase chain reaction (PCR) and amplicon sequencing were implemented for single nucleotide polymorphisms (SNPs) detection (+ 1245G/T, SP1 rs1800012), which revealed wild-type sequence for targeted SNPs in enrolled proband indicated negative results regarding COL1A1 gene involvement for current form of CI. It allows further investigation of other closely connected genes probed in this study. Computational approaches viz. Protein-protein interaction (PPI), gene ontology (GO), and pathway participation were used to identify the crucial hub genes and signaling pathways for COL1A1 and CI. Using the Yet Another Scientific Artificial Reality Application (YASARA) software, molecular docking, and molecular dynamic (MD) simulation with the oxytocin (CID 439,302), estradiol (CID 129,728,744), progesterone (CID 5994) and hydroxyprogesterone (CID 150,788) were done. Interactive bioinformatics analysis demonstrated that the COL1A1 and more than 10 collagen sister genes had a strong connection with CI. In sum, the findings of this study provide insights into a modus operandi that can be utilized to illuminate the path toward studying sister genes and smooth diagnosis of CI. These findings have implications for understanding the foundational process of the condition and potentially developing screening, diagnostic, and therapeutic interventions.
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摘要：
I型胶原α1(COL1A1,OMIM#120,150)基因,编码I型胶原蛋白的α-1链（UniProt#P02452），由于其在胶原蛋白合成中的显着参与，因此在生活稳态中起着关键作用。它是与宫颈机能不全（CI）的发病机理有关的有希望的候选基因。这项研究旨在确定COL1A1基因中有助于CI发展的遗传变异。聚合酶链反应（PCR）和扩增子测序用于单核苷酸多态性（SNP）检测（+1245G/T，SP1rs1800012),该研究揭示了登记先证者中靶向SNP的野生型序列，表明关于COL1A1基因参与当前形式CI的阴性结果。它允许进一步研究本研究中探测的其他紧密相连的基因。计算方法即。蛋白质-蛋白质相互作用（PPI），基因本体论(GO)，和通路参与用于鉴定COL1A1和CI的关键枢纽基因和信号通路。使用另一种科学人工现实应用程序（YASARA）软件，分子对接,和催产素的分子动力学(MD)模拟(CID439,302)，雌二醇（CID129,728,744），进行孕酮（CID5994）和羟孕酮（CID150,788）。交互式生物信息学分析表明，COL1A1和10多个胶原姐妹基因与CI有很强的联系。总之,这项研究的发现提供了一种操作方式的见解，可以用来阐明研究姐妹基因和CI顺利诊断的途径。这些发现对了解病情的基本过程和潜在的筛查具有重要意义。诊断,和治疗干预措施。
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