Prenatal diagnosis of women with an adverse reproductive history using both traditional karyotyping and SNP-array / 中华妇产科杂志

Objective To explore the occurrence of fetal chromosomal abnormalities among pregnant women with an adverse reproductive history using traditional karyotyping and single nucleotide polymorphism microarray(SNP-array)technology.Methods Totally 94 in 2 163(4.35%)cases of singleton pregnant women with an adverse reproductive history were performed amniocentesis in Jinhua Maternal and Child Health Care Hospital from June 2015 to June 2017. Traditional karyotyping and SNP-array were employed simultaneously for prenatal diagnosis,and the detection rates of the two methods were compared. Results All of the 94 specimens were successfully analyzed, 11 cases were found with chromosomal anomaly, the overall detection rate was 11.7%(11/94). Seven (7.4%,7/94) abnormalities cases were detected by karyotyping,and 7(7.4%)by SNP-array.The karyotyping results of trisomy 21,and 45,X and the deletion of chromosome 13 were consistent with SNP-array.Only 3(3.2%,3/94)microdeletion/duplications (the sizes of duplications and deletions were between 422.4-1 708.4 kb)and 1(1/4)loss of heterozygosity were detected by SNP-array,but were missed by karyotyping.Furthermore, 2 cases′copy number variation were found pathogenic gene related, while the other 2 were considered benign or variant of uncertain significance. Four cases(4/7)of abnormalities were detected by karyotyping, while confirmed balanced translocation and inversion by SNP-array.All patients were informed and chosen to continue the pregnancy.Conclusions The rate of abnormal fetal chromosomes in pregnant women with an adverse reproductive history is still high.SNP-array is a new molecular genetic technique,and combined with use of traditional karyotyping,it could improve the detection rate of fetal chromosomal abnormalities and reduce abortion rate, thus providing a basis for genetic counseling and prenatal diagnosis.

Insilico microarray analysis for helicobacter pylori using gene expression data.

Helicobacter pylori is a Gram-negative, microaerophilic bacterium that inhibits various areas of the stomach and duodenum. It causes a chronic low-level inflammation of the stomach lining and is strongly linked to the development of duodenal and gastric ulcers and stomach cancer. To better understand adaptive mechanisms utilized by H.pylori within the context of the host environment, spotted-DNA microarrays was utilized to characterize in a temporal manner, the global changes in gene expression in response to low pH in the pathogenic H. pylori strain G27. Raw data of this microarray work was available in Stanford Microarray Database. Co-regulated genes may share similar expression profiles, may be involved in related functions or regulated by common regulatory elements. There are different approaches to analyse the large-scale gene expression data in which the essence is to identify gene clusters. This approach has allowed us to (i) determine expression profiles of previously described developmentally regulated genes, (ii) identify novel developmentally regulated genes. The Helicobacter pylori is an important human and veterinary pathogen. In this work raw data of Helicobacter pylori is used as a sample to find out the coexpressed gene.

Regulatory effect of ulinastatin on NF-κB and MMP-2/TIMP-2 in rats with acute renal trauma / 第二军医大学学报

Objective: To investigate the expression of nuclear factor-κB (NF-κB), matrix metalloproteinase-2 (MMP-2), tissue inhibitor of metalloproteinase-2(TIMP-2) in the kidneys of rats with acute renal trauma, and to discuss the influence of ulinastatin on their expression and its protective mechanism on the kidney. Methods: The animal model was established by striking the rachi-costaz zone with falling object from the height of 45 cm. Sixty-six rats were randomly divided into three groups:normal control group (C,n = 6),trauma group (TRA,n = 30),and ulinastatin+trauma (UTI,n = 30); the last 2 groups were further divided into 1 h, 6 h, 12 h, 18 h and 24 h subgroups, with 6 animals at each time point. Tissue microarray and immunohistochemistry were used to examine the expression of NF-κB and MMP2/TIMP-2 in different groups. Results: MMP-2 and NF-κB began to express 1 h after trauma in TRA group and their expression was significantly stronger than that in the control group (P < 0.05, P < 0.01); their expression reached the peaks at 12 h and 6 h after trauma and then gradually decreased. The expression of MMP-2 and NF-κB in UTI group reached their peaks 18 h and 12 h after trauma,respectively,and was significantly higher than that in the control group(P<0.01),but was lower than that in the TRA group at corresponding time points(P<0.01,P<0.05). The expression of TIMP-2 was significantly stronger than that in the control group and TRA group at 6 h, 12 h and 18 h after trauma(P<0.01,P<0.05). Conclusion: The expression of NF-κB,MMP-2 is increased in acute traumatic tissue of the kidney; the increase of TIMP-2 is not evident. Ulinastatin can protect the kidney by inhibiting the expression of MMP-2 and NF-κB and maintaining the balance of MMP-2/TIMP-2.

Expression of Toll-like receptors signaling pathway in chronic rhinosinusitis with nasal polyps / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the expression of Toll-like receptors(TLRs)signaling pathway in chronic rhinosinusitis(CRS)with nasal polyps.Method:Gene microarray analysis was used to detect the expression of TLRs signaling pathway in CRS with nasal polyps.Result:Of 19 differentially expressed(two-fold changes),4genes were upregulated and 15 genes were downregulated.Conclusion:The differentially expressed genes in TLRs signaling pathway may exert its effect in the pathogenesis of CRS.In addition,the roles of TLR9 and its agonists need further study.

DNA microarray technology and its application advances in articular cartilage research / 国际生物医学工程杂志

DNA microarray generally refers to gene chips. Its basic principle is that a large number of oligonucleotide molecules were fixed on the support, and then hybridized with the labeled samples, and then the chip hybridization signal strength was scanned to determine the number of target in the samples. Gene chips can trace the nucleotide sequence in the samples for testing and analyzing. Its characteristics of high-throughput,rapid and parallel acquisition of biological information are better than that of other traditional gene detection technology. It has been widely used in various fields of medical research. This article reviews the application of DNA microarray technology in the study of orthopedics including biological characteristics, formation and development,injury and repair, degeneration and regeneration of articular cartilage.

MicroRNA expression profiling in hydroxycamptothecin-resistant human colon cancer cell line by microarray / 中华消化杂志

Objective To explore the role of a novel regulatory molecule-microRNA in the hydroxycamptothecin-resistant human colon cancer cell line SW1116/HCPT in order to provide a new reversal target for muhidrug resistance.Methods MicroRNA expression profiling in the hydroxycamptothecin-resistant human colon cancer cell line SW1116/HCPT were detected by microRNA array using microRCURYTM LNA Array V8.1 to screen multi-drug resistance(MDR)-related microRNAs.Specific stem-loop primers were used for reverse-transcribing cDNA and the expression of some MDR-related microRNAs were analyzed by the real-time PCR.Results The absorbance ratios of total RNA used for total RNA preparation was further confirmed by denaturing agarose gel electrophoresis.Compared to SW1116,28 microRNAs were down-regulated and 36 microRNAs were up-regulated in SW1116/HCPT cell line.The expression of two down-regulated microRNAs(hsa-miR-452 and hsa-miR-373*)and one up-regulated microRNA(hsa-miR-506)were confirmed by real-time PCR.The results of hsa-miR-452 and hsa-miR-506 were consistent with microRNA array nalysis,however,the expression of hsa-miR-373* may play a key role in the process of hydroxycamptothecin-resistant human colon cancer cell line SW1116/HCPT.

DNA methylation in ?-thalassemia by oligonucleotide microarray / 第三军医大学学报

Objective To search and analyze the DNA methylation-related genes of ?-thalassemia by oligonucleotide microarray in order to explore a new method for early diagnosis of ?-thalassemia.Methods The cord blood samples of 2 children with ?-thalassemia and 2 health children were detected by a chip containing human DNA methylation 30 178 oligonucleotide probes.The chip results were verified by the methods of methylation-specific PCR (MSP) and real-time PCR.The statistical significance of differentially expressed genes was found on non-supervised clustering (Hierarchical clustering).Results A total of 209 genetic differences (ratio≥2.0 or≤0.5) were showed by 2 groups of chips,and of them 113 genes were up-regulated and 96 genes were down-regulated.The results showed that the methylation-related gene erythroblastic leukemia viral (v-erb-a) was of hypermethylation compared with the normal blood.Conclusion A large number of differentially expressed genes are screened out by the technology of High-throughput DNA methylation of the gene chip in thalassemia.The DNA methylation-related gene of v-erb-a is of hypermethylation in thalassemia.Our methods offers a new idea and approach for prenatal diagnosis for thalassemia by the DNA methylation-related microarray.

The differential expression profile of polycystic ovary syndrome associated genes / 北京大学学报(医学版)

Objective:To explore the gene differential expression pattern of polycystic ovary syn-drome.Methods:We carried out microarray analysis to define the gene networks by the PCOS granulosacells in order to identify differentially expressed genes in PCOS patients.These granulosa cells of fivePCOS cases and five control cases which were derived during oocyte retrieval from women undergoingIVF.Results:As compared with control human ovarian granulosa cells,46 genes were screened out,25genes were up-regulated,and 21genes were down-regulated in PCOS.These differentially expressedgenes were involved in various biologic functions,such as regulation of fatty acid metabolism,cell-cellsignal transduction,immune and inflammatory response,reflecting the complexity of clinical manifesta-tions of PCOS.Conclusion:Microarray analysis technology is an effective mothod to identify novel PCOSassociated candidate genes.