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Chromosomal Aberrations In Fujian High Incidence Family Of Primary Hepatic Carcinoma And The Cluster Analysis On The Gene Variations

Posted on:2017-09-22Degree:MasterType:Thesis
Country:ChinaCandidate:W B YouFull Text:PDF
GTID:2334330503474111Subject:Internal medicine
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Objective: Screening of the chromosomal aberrations and gene vari ations in the PHC patients of Fujian high Incidence family,firstdegree relatives and the normal group,and locate the gene product functions by cluster analysis.Methods:Extracting the DNA from the blood samples in the PHC patie nts,first-degree relatives and the normal group, and use the array-CGH(array- comparative genomic hybridization) to proceed a geno me-wide screening,and detect chromosomal aberrations and gene vari ations. Utilizing the GORILLA online software to cluster the gene v ariations.Result:chromosomal aberrations and gene variations :There are diff erent degrees of chromosome gains and losses in PHC patients?first-degree relatives and normal group,and 86 chromosomal aberrations w ere detected,involing 206 gene variations. The average chromosomal gains and losses in each group have no significant difference stat istically(P=0.945).The frequency of the chromosomal gains and losse s in each group have no significant difference statistically(P>0.05).The gene variations have no significant difference statisticall y in the three groups(P>0.05).The results of cluster analysis :There are 31 remarkably en richment genes after cluster analysis.They are APOBEC3A?APOBEC3B?D EFB103A?DEFB103B?DEFB104A?DEFB104B?DEFB105A?DEFB105B?DEFB106A?DEFB106B?DEFB107A?DEFB107B?NPY4R?OR11H12?OR11H2?OR2T10?OR2T11?OR2T34?OR2T35?OR4C6?OR4K1?OR4K2?OR4K5?OR4M1?OR4M2?OR4N2?OR4N4?OR4P4?OR4Q3?OR4S2?ZDHHC11.The variant genes mainly exist in th cell membrane part; Molecular functions manifest the G protei n-coupled receptor activity, transmembrane receptor activity, signa l transduction, olfactory receptor activity, molecular transduction activity; The biological process is mainly correlated with the G p rotein-coupled receptor signaling pathways, perception of chemical stimulus, the perception of stimulus, signal transduction, olfacto ry perception, regulation of cellular process, regulation of biolog ical processes. The GO:0004930(P = 1.43 E-10) and GO: 0007186(P = 3.95 E-10) have the most significant enrichment in all GO terms.Conclusion:(1)There are obvious chromosomal gains and losses in th e PHC patients group,part of which are nonrandom(frequency>10% is s upposed to be nonrandom).(2)The chromosomal aberrations and DNA co py number variations have no significant correlation with the progr ess of PHC in Fujian high incidence family in our research.(3)The G protein-coupled receptor and the signaling pathway it mediated mig ht play a role in the process of Fujian PHC.
Keywords/Search Tags:High Incidence Family of Primary Hepatic Carcinoma, First-Degree Relatives, Chromosomal Aberrations, Copy Number Variat ions, Cluster Analysis
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