Application Of Gene Chip Technology Screening Susceptibility Genes Of Northern Anhui Budd-Chiari Syndrome(BCS)

Objective: to explore the Northern Anhui BCS disease susceptibility genes,provide certain basis for the BCS etiology research,and to help the early diagnosis,early treatment of the disease.Methods: to collect the 1st affiliated hospital of Bengbu Medical college vascular surgery between August 2013 and March 2014 hospitalized Budd-Chiari syndrome(BCS)group,32 cases as cases from the same period of the 1st affiliated hospital of Bengbu Medical college medical center with age,gender,health checks for a control,extraction of peripheral venous blood,DNA,specimen processing,adopt Infinium ? HD Assay of gene chip technology(including alkali denatured DNA-the whole genome expansion,fault-precipitation-heavy suspension-hybridization,washing-extension-dyeing-scan)and Genomestudio with matching analysis software,after a total RNA preparation,processing and purification of total RNA and quality testing,RNA,RNA purification marking and quality control,hybrid,flushing,chip scanning,extract the data,data analysis,obtain the target genes differentially expressed genes.Application Plink genome-wide association analysis tools,to several filter chip data,individuals or SNPs out low quality;With Fisher’s exact test case/control correlation analysis,using IPA query whether the genes with Budd Chiari-syndrome.Verify the SNP selection criteria: I)P < 0.0001(10-4);Ii)MAF > 0.05.Results: 32 cases of patients with blood samples from the whole genome sequencing and correlation analysis,select a total of 26897 SNPS locus mutation,include 9 high frequency of mutations:ANGPT1(rs4472483,rs16876325),COL4A1(rs9515162 rs3783113 rs1981316,kgp12393511,kgp11533359 kgp1789604 kgp740677)9 base a little mutation,and and the sequences of introns.Conclusion: the Northern Anhui BCS patients screened ANGPT1(rs4472483,rs16876325),COL4A1(rs9515162 rs3783113 rs1981316,kgp12393511,kgp11533359 kgp1789604 kgp740677)9 base a little mutation.Reveal the Northern Anhui BCS disease may be associated with the above genetic mutations.