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Bioinformatics Analysis Of The Genetics Of Microtia Syndrome

Posted on:2019-05-02Degree:MasterType:Thesis
Country:ChinaCandidate:X L WangFull Text:PDF
GTID:2404330572953290Subject:Surgery
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Objective:Microtia syndrome is a syndrome that involves multiple systems of the body and is characterized by small ear malformations.The symptoms of small ear malformations due to the syndrome are serious and have seriously affected the patient’s mental health.Therefore,in-depth study of the syndrome of small ear syndrome,it is of great significance to understand the characteristics of its symptoms and related genetic studies.This article discusses in depth the symptom features and genomics research progress of small ear malformations of various types of syndromes.Bioinformatics analysis of Treacher collins syndrome,Miller syndrome and Nager syndrome was performed using GEO database,DAVID database and STRING database..Digging deeper into the underlying pathogenesis of the three,laid the foundation for future research on the syndrome of small ear syndrome.Method:1.Gene screening of Treacher Collins syndrome was performed by GEO database.2.GO analysis and KEGG enrichment analysis were performed on the differentially expressed genes obtained in 1 using the DAVID database.3.Analyze the TCOF1,DHODH,and SF3B4 using the STRING database to obtain the three PPI protein networks.Result:1.The GSE10146 data set was obtained by using the GEO database for the differential expression genes of Treacher Collins syndrome.A total of 187 genes were obtained by using GE02R online analysis data set GSE10167.2.GO analysis and KEGG pathway enrichment showed that the genes involved in the expression of differentially expressed genes were involved in ion transport,a.poptosis and other biological processes.Expressed in cell membrane,axon and other cellular components;Participate in the molecular functions of ion channels,protein kinases,transcription inhibitors,etc.It also participates in AMPK signaling pathway,P53 signaling pathway and melanoma pathway.3.The PPI protein network of TCOF1 in the STRING database shows that TCOF1 interacts with NOLC1,PCNA,etc.and has protein-protein interact ions.The same two genes that are known as Treacher collins syndrome POLR1C,POLR1D,and TCOF1.There is also an interaction between proteins.The PPI protein network of DHODH and SF3B4 showed a close relationship with other proteins.Conclusion:By GEO database screen Trea.cher Collins syndrome of differentially expressed genes,screening differentially expressed genes to make use of database of DAVID GO analysis and KEGG pathway enrichment,can according to the analysis results for later disease genes and provides the new ideas to the pathogenesis.At the same time,the PPI protein network analysis of TCOF1,DHODH and SF3B4 can be explored to obtain the interrelationship between known and predicted proteins through experiments and texts.It also lays a foundation for the related genetic research of our further syndrome of small ear malformations.
Keywords/Search Tags:Microtia syndrome, bioinformatics, DEGs, TCOF1, DHODH, SF3B4
PDF Full Text Request
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