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2+0 CYP21A2 deletion carrier—a limitation of the genetic testing and counseling:A case report
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作者 Na Xi Xiao Song +4 位作者 Xue-Yan Wang Sheng-Fang Qin Guan-Nan He Ling-Ling Sun Xi-Min Chen 《World Journal of Clinical Cases》 SCIE 2021年第23期6789-6797,共9页
BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH childr... BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH children,genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.CASE SUMMARY We report a case of CAH with a high suspicion before delivery.The risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing results.Our report confirmed a CYP21A2 homozygous deletion in this case,CYP21A2 heterozygous deletion in the mother,and a rare 2+0 CYP21A2 deletion in the father.CONCLUSION It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH. 展开更多
关键词 CYP21A2 gene mutations Congenital adrenal hyperplasia PREGNANCY genetic counseling genetic testing Pathogenic point mutations Alleles
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Changes of p53 and Waf1p21 and cell proliferation in esophageal carcinogenesis 被引量:13
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作者 WANG Li Dong 1, YANG Wan Cai 1, ZHOU Qi 1, XING Ying 1,JIA Yun Ying 2 and ZHAO Xin 1 《World Journal of Gastroenterology》 SCIE CAS CSCD 1997年第2期30-32,共3页
AIM To study the correlationship between the changes of p53, Waf1p21 and the cell proliferation determined by PCNA at different stages of human esophageal carcinogenesis. METHODS Biopsied and resected esophageal ti... AIM To study the correlationship between the changes of p53, Waf1p21 and the cell proliferation determined by PCNA at different stages of human esophageal carcinogenesis. METHODS Biopsied and resected esophageal tissues from a high risk population for esophageal cancer in northern China were used in this study. All the specimens were fixed with 85% alcohol and further processed with routine histology. The avidin biotin peroxidase complex (ABC) method was used for the detection of p53, Waf1p21 and PCNA. RESULTS The strong nuclear staining for p53, Waf1p21 and PCNA was observed in the normal esophageal epithelium and the epithelia with different severities of lesions. As the lesions progressed to dysplasia (DYS) and to esophageal squamons cell carcinoma (SCC), the percentage of Waf1p21 immunoreactivity decreased. The number of Waf1p21 immunostaining positive cells increased slightly from normal to basal cell hyperplasia (BCH), but there was no further increase in DYS and in SCC. The total number of positive cells for Waf1p21 stain appeared to be lower than that of p53 in normal and BCH esophageal epithelia and much lower in DYS and SCC. The Waf1p21 positive immunostaining cells were located at the third and forth cell layers in half of the samples examined, which was 2~4 cell layers higher than that of PCNA and p53 in the same histological categories of normal, BCH and DYS. CLNCLUSION The low levels of Waf1p21 at the stage of DYS may be related to a functional loss of p53. Other mechanisms may also be responsible to the lack of Waf1p21 expression in DYS and SCC. 展开更多
关键词 ESOPHAGEAL neoplasms PRECANCEROUS conditions P53 geneS Waf1p21 genes suppressor tumor
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Association between gastric cancer and -1993 polymorphism of TBX21 gene 被引量:2
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作者 Le-Hui Zhang Qin Li +5 位作者 Peng Li Sheng-Tao Zhu Jing Wang Hong-Li Yang Chang-Qing Xu Xiu-Hua Guo 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第10期1117-1122,共6页
AIM: To investigate the association between the polymorphism of TBX21 gene and the risk of gastric cancer in a Chinese population. METHODS: The -1993 polymorphism located in TBX21 gene promoter region was identified b... AIM: To investigate the association between the polymorphism of TBX21 gene and the risk of gastric cancer in a Chinese population. METHODS: The -1993 polymorphism located in TBX21 gene promoter region was identified by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) method. The risk between TBX21 gene genotype and gastric cancer was determined by multivariate logistic regression analysis in 220 gastric cancer patients and 262 cancer-free controls matched by age, sex and ethnicity. RESULTS: Compared with the TBX21 -1993TT genotype, the -1993CC genotype exhibited a significantly elevated risk for gastric cancer [Odds ratio (OR) = 3.42, 95% confidence interval (CI): 1.41-8.31]. The relation-ship between the -1993 polymorphic genotype and the invasive status such as lymph node and distant metastasis was found among the gastric cancer patients (OR = 4.02, 95% CI: 1.87-8.66; OR = 7.02, 95% CI: 3.44-14.34, respectively). CONCLUSION: TBX21 -1993 polymorphism might contribute to the risk of gastric cancer, especially to the distant metastasis. 展开更多
关键词 TBX21 gene Gastric cancer POLYMORPHISM genetic susceptibility Association analysis
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p21^(WAF1/CIP1) Gene DNA Sequence Change and Their Relationship with the Phenotype of Human Osteosarcoma
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作者 张春林 廖威明 +2 位作者 李佛保 曾炳芳 曾益新 《The Chinese-German Journal of Clinical Oncology》 CAS 2004年第1期37-41,66,共6页
Objective: To investigate the p21WAF1 /CIP1gene DNA sequence change and their relationship with the phenotype of human osteosarcoma. Methods: p21WAF1 /CIP1gene DNA of 36 osteosarcoma spec- ... Objective: To investigate the p21WAF1 /CIP1gene DNA sequence change and their relationship with the phenotype of human osteosarcoma. Methods: p21WAF1 /CIP1gene DNA of 36 osteosarcoma spec- imens was examined by using polymerase chain reaction-single strand conformation polymorphism (PCR- SSCP) method. The PCR products were sequenced directly. Results: In p21WAF1 /CIP1 gene exon3 of 36 cases of human osteosarcoma, the change of C→T in the p21WAF1 /CIP1gene CDNA sequence of position 609th occurred in 17 cases with the incidence being 44.4%. In 10 normal blood samples, DNA sequence analysis showed the change of C→T in the p21WAF1 /CIP1gene CDNA sequence of position 609th occurred in 8 cases with the incidence being 80%. Conclusion: The novel location of p21WAF1 /CIP1gene polymorphism of osteosarcoma, but not mutation was de?ned, and this location might provide the meaningful reference for the further research of p21WAF1/CIP1 gene.p2lWAF1/CIP1基因DNA序列分析及其与骨肉瘤表型的关系 展开更多
关键词 p21WAF1 /CIP1 gene OSTEOSARCOMA PCR-SSCP DNA sequencing
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Expression of the Capsid Precursor Protein gene of Foot-and-mouth Disease Virus and Green Fluorescent Protein Gene in BHK-21 Cells Mediated by Retroviral Vector
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作者 LI Jiong LIU Yan-hong +4 位作者 AN Fang-lan LIU Jun-lin LIU Xiang-tao SHANG You-jun YIN Hong 《畜牧兽医学报》 CAS CSCD 北大核心 2010年第S1期70-75,共6页
We have constructed a retroviral vector mediated mammalian cell expression system of the capsid precursor protein of foot-and-mouth disease virus(FMDV).The recombinant retroviral vector pBABEpuro-P1-2A-EGFP was constr... We have constructed a retroviral vector mediated mammalian cell expression system of the capsid precursor protein of foot-and-mouth disease virus(FMDV).The recombinant retroviral vector pBABEpuro-P1-2A-EGFP was constructed by sequentially inserting capsid precursor protein gene(P1) of FMDV and enhanced green fluorescent protein gene(EGFP) into pBABEpuro.The recombinant retroviral vector and the pVSV-G plasmid were co-transfected into packaging cells(GP2-293) by liposomemediated transduction to produce the pseudovirus.The pseudovirus was used to infect BHK-21 cells and resistant cells were screened with puromycin.Green fluorescent proteins were observed by fluorescence microscopy and expression of the capsid precursor protein gene of FMDV was detected by indirect immunofluorescence.The recombinant retroviral vector pBABEpuro-P1-2A-EGFP was constructed successfully.The capsid precursor protein of FMDV and green fluorescent protein were expressed in BHK-21 cells.The mammalian cell expression system for the capsid precursor protein of FMDV has been constructed successfully,which lays the foundation of development of a FMDV subunit vaccine. 展开更多
关键词 retroviral vector FMDV capsid precursor protein gene green fluorescent protein gene BHK-21 cell
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Expression of IGF-Ⅱ,p53,p21 and HBxAg in precancerous events of hepatocarcinogenesis induced by AFBI and/or HBV in tree shrews 被引量:37
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作者 Qin LL Su JJ +3 位作者 Li Y Yang C Ban KC Yian RQ 《World Journal of Gastroenterology》 SCIE CAS CSCD 2000年第1期138-139,共2页
INTRODUCTIONIn order to study the relationship between oncogeneexpression and HCC generation,we observed theprecancerous hepatic GGT loci,IGF-Ⅱ,p53 andp21 expression during hepatocarcinogenesis of treeshrew induced b... INTRODUCTIONIn order to study the relationship between oncogeneexpression and HCC generation,we observed theprecancerous hepatic GGT loci,IGF-Ⅱ,p53 andp21 expression during hepatocarcinogenesis of treeshrew induced by hepatitis B virus (HBV) and/oraflatoxin B1 (AFB1). 展开更多
关键词 Subject heading liver neoplasms carcinoma hepatocellular hepatitis B virus IGF-Ⅱ P53 gene P21 gene HBXAG aflatoxin B1
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Construction of retroviral vector of p^(125FAK) specific ribozyme genes and its effects on BGC-823 cells 被引量:4
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作者 Guo-Xian Guan Hong-Xing Jian Dong-Yin Lei Hui-Shan Lu Xiang-Fu Zhang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第5期686-690,共5页
AIM: To construct the retroviral vector of p^125FAK specific ribozyme genes and to explore the feasibility of ribozyme in BGC-823 gene therapy in vitro. METHODS: A hammerhead ribozyme DNA targeting p^125FAK mRNA fro... AIM: To construct the retroviral vector of p^125FAK specific ribozyme genes and to explore the feasibility of ribozyme in BGC-823 gene therapy in vitro. METHODS: A hammerhead ribozyme DNA targeting p^125FAK mRNA from nt 1010 to nt 1032 was synthesized and recombinated into the retroviral vector pLXSN forming pLRZXSN recon. Using the lipofectin-mediated DNA transfection technique, pLRZXSN was introduced into BGC-823 cells. The effects of ribozyme on the growth of BGC-823 cells and apoptosis were studied by cell colony assay, flow cytometry (FCM), reverse transcriptasepolymerase chain reaction (RT-PCR), detection of DNA fragmentation and electron microscopy. RESULTS: The number of BGC-823 cell colonies was inhibited by 56% after the cells were treated for 48 h. The cell proliferation was inhibited effectively by p^125FAK ribozyme and the inhibitory effect depended on the concentration and the time of incubation. The expression of p^125FAK mRNA and protein p^125 decreased sharply in BGC-823 cells treated with p^125FAK ribozyme. The characteristics of apoptosis, namely sub-G1 peak, DNA fragmentation and morphological changes, were revealed in BGC-823 cells treated with p^125FAK ribozyme. CONCLUSION: p^125FAK ribozyme decreases p^125FAK gene expression and induces apoptosis of human gastric cancer cells in vitro. 展开更多
关键词 RIBOZYME p^12SFAK gene Stomach neoplasm APOPTOSIS
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Activation of p^(38) mitogen activated protein kinase induced by lipopolysaccharide and its role in TNF a gene expression 被引量:5
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作者 姜勇 刘爱华 +1 位作者 张琳 越克森 《Journal of Medical Colleges of PLA(China)》 CAS 1999年第2期138-143,共6页
Objective: To study the molecular mechanisms of TNF--a expression induced by lipopolysaccharide (LPS) for exploring novel methods to prevent or treat clinical patients with endotoxic shock. Methods:Protein kinase assa... Objective: To study the molecular mechanisms of TNF--a expression induced by lipopolysaccharide (LPS) for exploring novel methods to prevent or treat clinical patients with endotoxic shock. Methods:Protein kinase assay was used to detect the kinase activity stimulated by LPS; Con focal laser scan technique was used to show the translocation of p38 on the activation; RT PCR and reporter gene system were used to study the molecular mechanism of TNF -a gene transcription. Results: In RAW cells it was found that p38 was activated on the stimulation of LPS. and activated p38 moved into nucleus from cytosol; TNF--a mRNA increased on the stimulation of LPS and the increased promoter transactivity induced by LPS could be inhibited significantly by specific inhibitor for p38. Conclusion: p38 mitogen activated protein kinase (MAPK ) was activated by the stimulation of LPS,which brought about its entry to the nucleus to act on transcription factors to regulate cellular processes. p38 MAPK Is an important regulator of TNF--a gene expression induced by LPS. 展开更多
关键词 LIPOPOLYSACCHARIDE tumor necrosis factor gene transcription p^(38) MAPK
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Association between interleukin-21 gene rs907715 polymorphism and gastric precancerous lesions in a Chinese population 被引量:3
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作者 Xiao-Qin Wang Yang Li +5 位作者 Paul D Terry Wen-Jing Kou Yue Zhang Zhao-Zhao Hui Xiao-Han Ren Ming-Xu Wang 《World Journal of Gastrointestinal Oncology》 SCIE CAS 2020年第3期289-300,共12页
BACKGROUND The single nucleotide polymorphisms of interleukin-21(IL-21)gene were confirmed to be related to various diseases,but no studies have examined the possible role of IL-21 single nucleotide polymorphisms(SNPs... BACKGROUND The single nucleotide polymorphisms of interleukin-21(IL-21)gene were confirmed to be related to various diseases,but no studies have examined the possible role of IL-21 single nucleotide polymorphisms(SNPs)(rs907715,rs2221903,and rs12508721)in gastric precancerous lesions.AIM To explore the associations between SNPs of IL-21 gene(rs907715,rs2221903,and rs12508721)and gastric precancerous lesions in a Chinese population.METHODS Three SNPs of IL-21 were genotyped using polymerase chain reaction–ligase detection reaction in 588 cases and 290 healthy controls from May 2013 to December 2016 in northwestern China.Gastric precancerous lesions were confirmed by endoscopic examination and categorized as non-atrophic gastritis,atrophic gastritis,and intestinal metaplasia.Descriptive statistic and logistic regression were used for data analyses.RESULTS IL-21 rs907715 genotype CC and C frequencies were higher in in patients with gastric precancerous lesions than in the controls(OR=1.59,95%CI:1.06-2.38,P=0.013;OR=1.28,95%CI:1.01-2.22,P=0.044,respectively)after adjusting for confounding factors.For SNP rs907715 in intestinal metaplasia patients,significant differences between cases and controls were observed in the frequencies of genotype CC and C(OR=1.92,95%CI:1.24-2.98,P=0.004;OR=1.53,95%CI:1.04-2.24,P=0.028,respectively);for non-atrophic gastritis and atrophic gastritis patients,the CC and C genotypes showed no significant association with risk in all models.No association between either rs2221903 or rs12508721 and gastric precancerous lesions was found in the present study.In the haplotype analysis,the TC haplotype(rs907715 and rs12508721)and TT haplotype(rs2221903 and rs907715)were more frequent in the case group than control group(P<0.05).CONCLUSION Our findings indicate that SNP rs907715 of IL-21 gene is associated with gastric precancerous lesions.The TC haplotype(rs907715 and rs12508721)and TT haplotype(rs2221903 and rs907715)increased the risk of gastric precancerous lesions.If confirmed,these findings will shed light on the etiology of precancerous lesions. 展开更多
关键词 Interleukin-21 gene Single nucleotide polymorphisms rs907715 Gastric precancerous lesions Intestinal metaplasia
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HER2 gene status and the relationship with p21 protein expression in gastric cancer 被引量:3
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作者 Yongjie Li Yangkun Wang +4 位作者 Xianwei Zhang Fulin Li Nianlong Meng Xutao Yuan Jinsheng Song 《The Chinese-German Journal of Clinical Oncology》 CAS 2011年第3期162-165,共4页
Objective: We aimed to analysis the HER2 gene status and its relationship with p21 protein expression in gastric carcinoma. Methods: Fluorescence in situ hybridisation (FISH) and immunohistochemistry (IHC) techn... Objective: We aimed to analysis the HER2 gene status and its relationship with p21 protein expression in gastric carcinoma. Methods: Fluorescence in situ hybridisation (FISH) and immunohistochemistry (IHC) techniques were used to detect HER2 gene status and p53 protein in 59 cases of gastric cancer. Results: FISH detection of HER2 gene amplification rate was 16.9% (10/59), HER2 gene amplification in 49 cases without copy number gain and gene amplification were a total of 49.2% (29/59). HER2 protein expression was 42.4% (25/59), HER2 gene amplification rates in patients with +++, ++ HER2 protein expression were 3/3 and 5/8, while in patients with + HER2 protein expression, it was 2/14, there was significant difference (P 0.05). p21 protein expression rate was 49.2% (29/59), HER2 gene amplification rates and p21 protein expression had significant difference in tumor invasion depth, lymph node metastasis (P 0.05); had no statistical significance in histological type, age, gender differences (P 0.05). Conclusion: HER2 gene amplification rate and gene copy number had positively correlation with p21 protein expression, HER2 gene status and expression of p21 protein combined detection can provide a reference value in gastric cancer metastasis, patient’s condition development and prognosis, it also can guide clinical development of individual treatment. 展开更多
关键词 stomach cancer HER2 gene p21 protein expression
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Marker-Assisted Introgression of Quantitative Resistance Gene pi21 Confers Broad Spectrum Resistance to Rice Blast 被引量:1
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作者 Rosalyn B.ANGELES-SHIM Vincent P.REYES +6 位作者 Marilyn Mdel VALLE Ruby S.LAPIS Junghyun SHIM Hidehiko SUNOHARA Kshirod K.JENA Motoyuki ASHIKARI Kazuyuki DOI 《Rice science》 SCIE CSCD 2020年第2期113-123,共11页
The quantitative resistance gene pi21 from Sensho was introgressed to an indica breeding line IR63307-4B-13-2,a pyramiding line IRBB4/5/13/21,and a tropical japonica line Kinandang Patong by marker-assisted backcrossi... The quantitative resistance gene pi21 from Sensho was introgressed to an indica breeding line IR63307-4B-13-2,a pyramiding line IRBB4/5/13/21,and a tropical japonica line Kinandang Patong by marker-assisted backcrossing.A total of 192 improved lines at the BC4F3 and BC4F4 generations were developed and confirmed to have the gene introgression via genotyping using a pi21-specific InDel marker.Thirteen randomly selected improved lines,representing all the three genetic backgrounds,demonstrated resistance against leaf blast composites in the field and a broader spectrum resistance against individual isolates compared to the recurrent parents in the glasshouse.Specifically,the tested lines exhibited pi21-acquired resistance against 11 leaf blast isolates that elicited susceptible reactions from the recurrent parents.All the tested lines maintained a comparative heading date,and similar or improved panicle length,number of primary branches per panicle and number of total grains per panicle relative to the recurrent parents.The physical grain characteristics of the recurrent parents were also maintained in the 13 lines tested,although variability in the amylose content and chalkiness degree was observed.The successful marker-assisted introgression of pi21 in diverse genetic backgrounds and the resulting broader spectrum resistance of improved lines against leaf blast indicate the potential of pi21 for deployment in cultivars grown across other rice growing regions in Asia. 展开更多
关键词 rice BLAST pi21 gene marker-assisted BREEDING disease RESISTANCE
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A STUDY OF POINT MUTATION IN STEROID21-HYDROXYLASE GENE IN CHINESE CHILDREN WITHCONGENITAL ADRENAL HYPERPLASIA
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作者 王伟 高雁翎 +3 位作者 王德芬 陈凤生 倪继红 曾畿生 《Medical Bulletin of Shanghai Jiaotong University》 CAS 1998年第Z1期56-59,共4页
Objective To study Chinese children with congenital adrenal hyperplasia (CAH) in the types ofpoint mutation in steroid 21 - hydroxylase gene (CYP21). Methods By using PCR-ASO hybridization analysiswith amplified segme... Objective To study Chinese children with congenital adrenal hyperplasia (CAH) in the types ofpoint mutation in steroid 21 - hydroxylase gene (CYP21). Methods By using PCR-ASO hybridization analysiswith amplified segments involving exon 3-4 and exon 6-8 of the gene to investigate for the type ofmutations. Results The results showed among 5 point mutations detected positive findings being in 28/66 (42%)of CAH chromosomes, or 17/33 (52%) of the CAH cases examined. The only 1 non - classic form CAH case wasfound as homonsous for val - 281→len mutation. Three classic cases were heterozygous for compound mutations asnitron 2 A, C→G associated with lie-172→Asn or lie - 172→Asn with Gin-318→stop. The other point mutationsall revealed as homozygous alleies with the most freguent matations as nitron 2A, C→G. No PCR product wereprovided by 3 cases who had been verilied by Southern blotting with CYP21 B gene deletion (not shown). NO pointmutations were illustrated in normal controls. Conclusion This report presentS data in 17/33 (52K) of Chinesechildren with CAH in CYP 21 B gene had point mutations documenting the type and location of mutation indiagnosis of CAH. 展开更多
关键词 point MUTATION CONGENITAL ADRENAL HYPERPLASIA 21-hydroxyiase gene
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Inhibitory effect of tumor suppressor p33^(ING1b) and its synergy with p53 gene in hepatocellular carcinoma 被引量:10
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作者 ZhiZhu JingLin +4 位作者 Jian-HuiQu MarkA.Feitelson Can-RongNi Fang-MeiLi Ming-HuaZhu 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第13期1903-1909,共7页
AIM: To investigate the inhibitory effect of tumor suppressor p33ING1b and its synergy with p53 gene in hepatocellular carcinoma (HCC).METHODS: Recombinant sense and antisense p33ING1b plasmids were transfected into h... AIM: To investigate the inhibitory effect of tumor suppressor p33ING1b and its synergy with p53 gene in hepatocellular carcinoma (HCC).METHODS: Recombinant sense and antisense p33ING1b plasmids were transfected into hepatoma cell line HepG2 with lipofectamine. Apoptosis, G0/G1 arrest, cell growth rate and cloning efficiency in soft agar of HepG2 were analyzed after transfection. In three hepatoma cell lineswith different endogenous p53 gene expressions, the synergistic effect of p33ING1b with p53 was analyzed by flow cytometry and luciferase assay was performed to detect the activation of p53 downstream gene p21WAF1/CIP1. In addition, the expression and mutation rates of p33ING1b in HCC tissues were measured by immunohistochemistry and polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP).RESULTS: Overexpression of p33ING1b inhibited cell growth of HepG2, induced more apoptosis and protected cells from growth in soft agar. Combined transfer of p33ING1b and p53 gene promoted hepatoma cell apoptosis, G0/G1 arrest and elevated expression of p21WAF1/CIP1. Immunostaining results showed co-localized P33ING1b with P53 protein in HCC tissues and there was a significant relation between protein expression rates of these two genes (P<0.01).Among 28 HCC samples, p33ING1b presented a low gene mutation rate (7.1%).CONCLUSION: p33ING1b collaborates with p53 in cell growth inhibition, cell cycle arrest and apoptosis in HCC. Loss or inactivation of p33ING1b normal function may be an important mechanism for the development of HCC retaining wildtype p53. 展开更多
关键词 gene p33INGlb gene p53 Apoptosis Cell cycle arrest gene p21wafl Liver neoplasm
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Involvement of gene expressions in apoptosis of vascularendothelial cells induced by rattlesnake venom 被引量:3
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作者 MIAO JUN YING SATOHIKO ARAKI +1 位作者 YI RENHAN HIROSHI HAYASHI(Institute of DeveloPmental Biology, School of Life Sci-ence, Shandong University, Jinan 250100, China)(Sugashima Marine BiolOgical Labomtory, School of Sci-ence, Nagoya University, To6a, Me, 517 Japa 《Cell Research》 SCIE CAS CSCD 1999年第3期237-242,共6页
Formation of apoptotic bodies is a typical character ofaPoptotic cell death, but how the processes are controlledis not known. In this study, we compared two apoptosisinducing systems in vascular endothelial cells (VE... Formation of apoptotic bodies is a typical character ofaPoptotic cell death, but how the processes are controlledis not known. In this study, we compared two apoptosisinducing systems in vascular endothelial cells (VEC). Wefound that the formation of aPoptotic bodies during apop-tosis induced by rattlesnake venom, which is an unique andspecific aPoptosis inducer to vascular endotheliaI cells, wasmuch faster than that induced by deprivation of survivalfactors (aFGF and serum). When we blocked the synthesisof mRNAs in cells treated with rattlesnake venom by DRB(5, 6- dichloro- 1 -β- D- rib ofur anosylb enzimidazole ), an in-hibitor of transcription, the formation of aPoptotic bodieswas dramatically inhibited. We examined the expressionof Psa gene and found that its expression was much higherin apoptosis induced by rattlesnake venom than that inaPoptosis induced by deprivation of aFGF and serum. Ourresults suggest that gene expression is important and P53gene may play a major role in inducing the formation ofapoptotic bodies in VEC. 展开更多
关键词 APOPTOSIS ratt1esnake venom gene expressions P^53 gene endothelia1 cells
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FREQUENT STRUCTURE ALTERATIONS OF p53 GENE IN NASOPHARYNGEAL CARCINOMA 被引量:1
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作者 龙江斌 区宝祥 +1 位作者 梁启万 李辉梅 《Chinese Medical Sciences Journal》 CAS CSCD 1998年第3期145-149,共5页
By southern hybridization with 1. 8 kb cDNA probe,a high frequency (40. 5 % ) of structural abnor- mality of p53 gene was observed in primary nasopharyngeal carcinoma (NPC) biopsies. The regions of ex- ons 1 to 4 ... By southern hybridization with 1. 8 kb cDNA probe,a high frequency (40. 5 % ) of structural abnor- mality of p53 gene was observed in primary nasopharyngeal carcinoma (NPC) biopsies. The regions of ex- ons 1 to 4 of the gene were examined by polymerase chain reaction-single strand con formation polymor- phism,no point mutation was found. Because very low rate of point mutation had been reported in exons 5 to 8, we considered that structural abnormality in the region of e-cons 1 to 8 of the gene might be uncom- mon in NPC. The spectrophotometer scanning analysis of autoradiograms and rehybridization investigation of nitrocellulose filter with exon 11 probe indicated that most of structure aberrations we observed might be rearrangement occurring in exon 11. 展开更多
关键词 nasopharyngeal carcinoma p^(53) gene MUTATION
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德宏奶水牛乳腺组织miR-21-5p基因及其脂类代谢靶基因表达研究
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作者 赵洪晓 徐思慧 +4 位作者 庞双龙 孙政 杨忠 李卫真 黎明 《饲料研究》 CAS 北大核心 2024年第2期53-57,共5页
试验旨在探究德宏奶水牛乳腺组织miR-21-5p基因及其靶基因的表达规律。选取饲养条件相同、同一胎次、年龄相近、处于泌乳中期的健康德宏奶水牛,分为高乳脂率组(H组)、中乳脂率组(M组)和低乳脂率组(L组)。每组选取3头奶水牛,屠宰后采集... 试验旨在探究德宏奶水牛乳腺组织miR-21-5p基因及其靶基因的表达规律。选取饲养条件相同、同一胎次、年龄相近、处于泌乳中期的健康德宏奶水牛,分为高乳脂率组(H组)、中乳脂率组(M组)和低乳脂率组(L组)。每组选取3头奶水牛,屠宰后采集乳腺组织,提取总RNA。采用生物信息学方法预测miR-21-5p的靶基因。利用荧光定量PCR技术检测miR-21-5p及其靶基因的表达水平,并与课题组前期测定的乳脂率进行相关性分析。结果显示,miR-21-5p的靶基因可能为AGPAT6和GPAM。L组德宏奶水牛乳腺组织中miR-21-5p的表达水平高于M组和H组(P<0.01)。相关性分析结果显示,miR-21-5p与靶基因AGPAT6的表达水平呈极显著负相关(P<0.01),与靶基因GPAM的表达水平呈显著负相关(P<0.05),德宏奶水牛乳腺组织miR-21-5p表达量与乳脂率呈显著负相关(P<0.05),靶基因AGPAT6和GPAM与乳脂率呈极显著正相关(P<0.01)。蛋白互作网络结果显示,AGPAT6和GPAM互作关系最强。研究表明,miR-21-5p可能通过负调控靶基因AGPAT6和GPAM的表达影响乳脂合成,进而影响乳脂率。 展开更多
关键词 德宏奶水牛 乳脂率 靶基因 miR-21-5p基因
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乳腺MRI预测ER^(+)/HER2^(-)乳腺癌21基因检测复发风险评分的价值
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作者 陈阳 汤伟 +1 位作者 顾雅佳 彭卫军 《肿瘤影像学》 2024年第1期20-30,共11页
目的:探究乳腺磁共振成像(magnetic resonance imaging,MRI)影像学特征与21基因检测复发风险评分(recurrence score,RS)的相关性,并建立RS预测模型。方法:收集2017年4月—2019年3月在复旦大学附属肿瘤医院进行21基因检测的雌激素受体(es... 目的:探究乳腺磁共振成像(magnetic resonance imaging,MRI)影像学特征与21基因检测复发风险评分(recurrence score,RS)的相关性,并建立RS预测模型。方法:收集2017年4月—2019年3月在复旦大学附属肿瘤医院进行21基因检测的雌激素受体(estrogen receptor,ER)阳性、人表皮生长因子受体2(human epidermal growth factor receptor2,HER2)阴性乳腺癌患者的资料,筛选出有术前MRI检查的患者拟入组。以RS=26分为临界值,将患者分为高危组(RS≥26)与低危组(RS<26)。根据2013版乳腺影像报告和数据系统标准评估患者图像。运用单因素检验比较MRI影像学特征在RS分组间差异,运用多元logistic回归构建RS预测模型。以7∶3比例将患者分为训练组和验证组,使用Pearson相关系数筛选法和递归特征消除法进行特征筛选,运用合成少数类过采样技术法进行重采样,使用4种不同机器学习模型算法构建模型(线性支持向量机、随机森林、决策树和K近邻)。运用受试者工作特征(receiver operating characteristic,ROC)曲线评估模型效能。结果:共入组159例患者(低危组58例,高危组101例)。在临床病理学特征中,孕激素受体(progesterone receptor,PR)表达状态组间差异有统计学意义(P=0.017),低危组PR表达阳性患者占比更高。在MRI影像学特征中,肿块边缘组间差异有统计学意义(P=0.008),低危组肿块多表现为边缘毛刺(64.8%),高危组肿块多表现为边缘不规则(54.7%)。将PR状态和肿块边缘纳入多因素logistic回归模型,PR阳性与PR阴性相比,PR阳性患者复发风险相对低,OR值为0.110(P=0.038);边缘毛刺的肿块与边缘不规则肿块相比,边缘毛刺的肿块复发风险相对低,OR值为0.343(P=0.004)。Logistic回归模型曲线下面积(area under curve,AUC)为0.67,且该模型校准性能良好且具有一定临床实用性。以7∶3划分后,训练组纳入111例患者(低危组34例,高危组77例),验证组纳入48例患者(低危组和高危组均为24例)。4种机器学习模型AUC为0.64~0.69,支持向量机和随机森林模型预测效能相对较高。结论:MRI在评估ER+/HER-乳腺癌患者复发风险方面具有潜在价值。 展开更多
关键词 乳腺癌 磁共振成像 21基因检测 复发风险评分
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Expression of hHR21^(sp) gene by peripheral blood and hematopoietic cells of normal subjects and Fanconi anemia patients
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作者 邓宇斌 李树浓 +1 位作者 李夏新 Teyssier Magali 《Chinese Medical Journal》 SCIE CAS CSCD 2001年第12期63-67,107-108,共7页
Objective The radiation sensitive gene rad 21 of Schizosaccharomyces pombe is involved in the repair of double-stranded breaks in DNA and is essential for mitotic growth. The hHR21 sp g... Objective The radiation sensitive gene rad 21 of Schizosaccharomyces pombe is involved in the repair of double-stranded breaks in DNA and is essential for mitotic growth. The hHR21 sp gene is its human homologue. In an attempt to investigate the role of hHR21 sp in DNA repair, we studied the effects of UV and γ-ray irradiation on hHR21 sp gene expression in normal human peripheral blood cells, and non-iradiated peripheral and bone marrow cells from Fanconi anemia (FA) patients who have shown DNA repair deficiency.Methods Total steady state RNA was extracted from peripheral blood cells and bone marrow. RNA transcripts were quantified after RT-PCR and Southern blot, phosphoimmage and autoradiogram analysis. The results were compared with control groups. Results hHR21 sp expression was significantly increased from 3?h to 9?h after UV irradiation in peripheral blood cells from normal subjects at doses of 40-80?j/m 2 (P<0.05). hHR21 sp was also up-regulated by γ-ray irradiation at 6?h to 9?h at dose of 1 to 5?Gy (P<0.01), which was more significant than the UV irradiation. In the non-irradiated FA patient group, hHR21 sp expression was decreased in bone marrow hematopoietic cells (P<0.05). After activation by PHA and IL-2, there was still a significant depression in expression by the FA patients peripheral blood cells compared with control groups (P<0.05). Conclusion hHR21 sp was up-regulated at doses and times irradiated at the range tested in normal peripheral blood cells, and is more affected by γ-ray irradiation than UV irradiation. FA patient bone marrow hematopoietic cells and peripheral blood mononuclear cells showed down-regulation of hHR21 sp expression. The results imply that defects in DNA repair via hHR21 sp expression may play an important role in the pathogenesis of FA syndrome. 展开更多
关键词 ionizing radiation · Fanconi's anemia · gene expression · hHR21 sp · gene
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舌鳞状细胞癌组织中p^(53)、p^(21)和bcl-2基因蛋白的表达 被引量:5
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作者 潘朝斌 黄洪章 +2 位作者 陈伟良 李海刚 王安训 《中山医科大学学报》 CSCD 2000年第4期248-250,共3页
【目的】研究 p5 3、p2 1和bcl 2基因蛋白在舌鳞状细胞癌组织中的表达及其临床意义。【方法】用免疫组化SP法检测 5 4例舌鳞状细胞癌组织标本p5 3、p2 1和bcl 2癌基因蛋白表达。【结果】舌鳞状细胞癌组织中p5 3、p2 1和bcl 2蛋白阳性率... 【目的】研究 p5 3、p2 1和bcl 2基因蛋白在舌鳞状细胞癌组织中的表达及其临床意义。【方法】用免疫组化SP法检测 5 4例舌鳞状细胞癌组织标本p5 3、p2 1和bcl 2癌基因蛋白表达。【结果】舌鳞状细胞癌组织中p5 3、p2 1和bcl 2蛋白阳性率分别为 46 %、6 1%、46 % ;p5 3和 p2 1蛋白表达与肿瘤细胞分化程度及颈淋巴结转移有关 (P <0 0 5 ) ;p5 3蛋白表达与 p2 1蛋白表达有关 (P <0 0 5 ) ,bcl 2基因蛋白表达与 p5 3或p2 1基因蛋白表达无关 (P >0 0 5 )。【结论】舌鳞状细胞癌组织中具有较高的 p5 3、p2 1和bcl 2癌基因蛋白表达 ;p5 3和 /或p2 1蛋白阳性病例恶性程度高 ,易发生颈淋巴结转移。p5 3和 /或 p2 展开更多
关键词 舌鳞状细胞癌 舌肿瘤 P53 P21 BLC-2 基因表达
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膀胱癌癌基因蛋白P^(21)和抑癌基因蛋白P^(53)的表达及其意义
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作者 李伯全 李玉魁 《解放军医药杂志》 CAS 1995年第5期324-326,共3页
采用流式细胞术和细胞免疫荧光染色技术,对42例膀胱移行细胞癌癌基因蛋白P^(21)和抑癌基因蛋白P^(53)表达进行了定量分析。结果显示,P^(21)及P^(53)蛋白表达阳性率分别是69.0%和57.1%,联合表达阳性者45.12%。P^(21)和P^(53)蛋白表达... 采用流式细胞术和细胞免疫荧光染色技术,对42例膀胱移行细胞癌癌基因蛋白P^(21)和抑癌基因蛋白P^(53)表达进行了定量分析。结果显示,P^(21)及P^(53)蛋白表达阳性率分别是69.0%和57.1%,联合表达阳性者45.12%。P^(21)和P^(53)蛋白表达与肿瘤分级、分期、DNA倍体类型及预后密切相关。提示测定P^(21)和P^(53)在膀胱肿瘤的表达,对预后能作出客观判断。 展开更多
关键词 膀胱Bladder 移行细胞癌Transitional cell carcinoma 癌基因蛋白P21P21Oncogene PROTEIN P21 抑癌基因蛋白P53P53 Suppressor gene PROTEIN P53 流式细胞术Flow CYTOMETRY
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