Detection of somatic mutations in deteriorated cell of peritoneal mesothelioma by whole genome sequencing / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To detect the somatic mutations in peritoneal mesothelioma with whole genome sequencing technique.</p><p><b>METHODS</b>Surgically resected cancer and pericancerous tissue samples from one patient with peritoneal mesothelioma were obtained. The whole genome sequences of tumor tissue and pericancerous tissue were examined by the second generation sequencing technique and compared with reference sequences from human genome database.</p><p><b>RESULTS</b>There were 639 717 single nucleotide variations (Single Nucleotide Variation SNV) found in both tumor and pericancerous tissue cells; while 20 302 SNVs were unique for tumor cells and 2 185 SNVs unique for pericancerous tissue, but still 223 SNVs found in cancer and pericancerous tissue were differed from those in human genome database.</p><p><b>CONCLUSION</b>The preliminary results indicate that merely comparing the gene sequences of cancer and pericancerous tissue samples in an individual with the human genome reference sequence can not accurately locate all somatic mutations in pathological cells. For those individualized diseases caused by random somatic mutations, it is suggested to sequence the whole genome at birth or at least to reserve a DNA sample at early age for both research and clinical needs.</p>

Study on the diferences of gene expression of peripheral blood mononuclear cells between ACCPA+ and ACCPA patients with rheumatoid arthritis / 中华风湿病学杂志

Objective To explore the differences of gene expression of peripheral blood mononuclear cell (PBMC) between the anti-cyclic citrullinated peptide antibody (ACCPA) positive and ACCPA negative patients with rheumatoid arthritis (RA) by microarray analysis.Methods Total RNA was extracted from PBMC of 5 ACCPA positive and ACCPA negative patients with RA,and age-and sex-matched control subjects respectively.Ⅲumina oligonucleotide microarray was used to characterize 47231gene expression profile for each sample.Results Among the target genes,88 differentially expressed genes were identified in RA patients.Fifty-one up-regulated genes and 37 down-regulated genes were found in RA patients compared to those in control subjects (fold change＞1.5).The differential expression of genes were associated with apoptosis,cytokine,signal identification protein,chemotaxis factor etc.There were 20 differential expression genes between the ACCPA positive and ACCPA negative patients with RA,9 up-regulated genes and 11 downregulated genes were found.The differential expression genes were associated with protein biding,,translation control,signal identification protein,cell cycle,metabolism etc.Conclusion There are differential gene expression between the ACCPA positive and ACCPA negative patients with RA.Genes screened from the target such as IFI,KIR,CHI3L1 can provi-de important information for further study and treatment of RA.