Objective In the candidate region 12q13 of simple congenital heart defect(CHD),two single nucleotide polymorphisms(SNPs)in the coding-region of GLI1 gene,rs11553626 and rs2228226,were chosen to investigate their distribution in 180 simple CHD patients and 200 normal controls which were collected in the first affliated hospital,China Medical University and The General Hospital of Shenyang Military Area,in order to determine the relationship between GLI1 gene and simple CHD.Methods Genotypes of these two SNPs were analyzed in 180 simple CHD patients and 200 normal controls by Denatured High Performance Liquid Chromatography(DHPLC)and sequencing from Jan.2000 to Jun.2005.?~2 test was applied to analyze the genotype frequency and allele frequency between CHD groups and control groups.Results No polymorphisms were found at rs11553626 while G/C polymorphisms were found at rs2228226.Remarkable significance was observed at rs2228226 in the allele frequency distribution(?~2=8.956,P

Objective:To explore the effects and molecular mechanism of circ_001598 on biological behavior of breast cancer (BC) cells.Methods:Sevoflurane in different concentrations were used to treat BC cells and the cell activity and apoptosis were detected. qRT-PCR was used to determine the relative expression of Circ_001598 and miR-588 in BC tissue and cells. The effects of Sevoflurane on Circ_001598, miR-588 expression was detected. Dual luciferase reporter gene assay was used to detect the relationship between Circ_001598 and miR-588. The expression of Circ_001598, miR-588 in BC cells was intervened, then cell activity and apoptosis level was detected by using MTT and flow cytometry individually.Results:Sevoflurane inhibited cell activity of BC cells, and promoted cell apoptosis. Circ_001598 was increased in BC tissue and cells, but Sevoflurane could down-regulate the expression of Circ_001598 (all P<0.05) . Overexpression of Circ_001589 partially saved the effects of Sevoflurane on cell viability and apoptosis. Circ_001598 negatively regulated miR-588 in BC cells. miR-588 expression was down-regulated in BC tissue and cells, but Sevoflurane up-regulated the expression level of miR-588 in BC cells (all P<0.05) . miR-588 transfection partially offseted the effects of Circ_001598 on Sevoflurane induced BC cells apoptosis. Conclusion:Sevoflurane affects BC cell viability and apoptosis via regulating Circ_001589/miR-588.

Objective:To investigate the relationship between key molecules of interleukin-6/signal transducer and activator of transcription 3 (IL-6/STAT3) signaling pathway and breast cancer susceptibility.Methods:A case-control study design was adopted. 136 patients with breast cancer admitted to Department of Breast Surgery, Yantai Yantaishan Hospital from Mar. 2021 to Mar. 2023 were selected as the case group, and 136 healthy subjects of the same age were matched as the control group in a 1:1 ratio. The clinical data and key molecules of IL-6/STAT3 signaling pathway were compared between the two groups. The risk factors of breast cancer susceptibility were evaluated by conditional Logistic regression and addition analysis, and the diagnostic efficiency of receiver operating characteristic curve (ROC) and area under curve (AUC) were plotted.Results:The body mass index (BMI) (22.21±0.68 vs. 21.30±0.70 kg/m 2), age at menarche (13.50±1.24 years vs. 14.83±1.42 years), IL-6 (3.50±1.05 vs. 2.41±0.74), Janus protein kinase 1 (JAK1) mRNA (1.23±0.36 vs. 0.88±0.26), STAT3 mRNA (1.68±0.50 vs. 1.17±0.35), and menopause (30.15% vs. 55.88%), breastfeeding (82.35% vs. 92.65%), physical exercise (44.12% vs. 58.09%) were significantly different between the case group and the control group ( t=10.87, 8.23, 9.89, 9.19, 9.75, χ2=18.37, 6.59, 5.31, P<0.05). Breastfeeding [odd ratio ( OR) : 0.550], interleukin-6 (IL-6) ( OR: 4.409), janus protein kinase 1 (JAK1) ( OR: 5.370) and signal transducer and activator of transcription 3 (STAT3) ( OR: 4.386) mRNAs were risk factors for breast cancer susceptibility ( P<0.05). ROC curve showed that the combined diagnostic efficacy of IL-6, JAK1, STAT3 mRNA in breast cancer was significantly better than that of a single diagnostic efficacy. The incidence rate of breast cancer in those who were exposed to IL-6 mRNA and breast feeding was 3.508 times higher than that in those who were not exposed. The incidence rate of breast cancer in those who were exposed to JAK1 mRNA and breast feeding at the same time was 4.136 times higher than that in those who were not exposed. The incidence rate of breast cancer in those who were exposed to STAT3 mRNA and breast feeding was 3.537 times higher than that in those who were not exposed. Conclusion:The key molecules of IL-6/STAT3 signaling pathway and breast-feeding are predisposing factors of breast cancer, and they have additive interaction, thus increasing the susceptibility of breast cancer, which has significant practical significance for the differential diagnosis and treatment of this disease.

OBJECTIVETo identify and characterize laryngeal cancer related novel genes located on chromosome 6q25.

METHODSElectric hybridization was performed in human genome database using EST (expression sequence tag) as probe. Novel genes were deduced by software from positive DNA clones and their cDNAs were amplified by RT-PCR using primers designed according to the sequence of the putative genes.

RESULTSA novel gene was cloned successfully. The full length of this gene was about 21 kb. It contained two exons and produced a 1006 bp transcript coding a protein with 235 amino acid residues. It's 5'flanking sequence contained two binding sites of oncoprotein c-Myc, thus it was named MTLC (c-Myc target from laryngeal cancer cells). Homologous assay showed that MTLC exhibited little overall homology to known human proteins but it exhibited good overall homology to mouse MT-MC1 protein with an identity of 78%. The primary structure of MTLC protein contained a nuclear location signal motif, but it did not have other conserved domains. The results of subcellular location experiment showed that MTLC expressed in nuclei of human hepatocellular carcinoma cell line Bel7402 cells, while a wide distribution of MTLC in various tissues was demonstrated by Northern blotting.

CONCLUSIONMTLC may play an important role as a target gene of c-Myc and as a transcription factor in keeping the normal physiological process of cells.

Amino Acid Sequence ; Base Sequence ; Blotting, Northern ; Chromosomes, Human, Pair 6 ; genetics ; Cloning, Molecular ; DNA, Complementary ; chemistry ; genetics ; Gene Expression ; Green Fluorescent Proteins ; Humans ; Laryngeal Neoplasms ; genetics ; Luminescent Proteins ; genetics ; metabolism ; Microscopy, Fluorescence ; Molecular Sequence Data ; Nuclear Proteins ; genetics ; Recombinant Fusion Proteins ; genetics ; metabolism ; Sequence Alignment ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; Tumor Cells, Cultured