Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition

Chen, Qing-Wei,Zhang, Xiao-Mei,Zhou, Jian-Nong,Zhou, Xin,Ma, Guo-Jian,Zhu, Ming,Zhang, Yuan-Ying,Yu, Jun,Feng, Ji-Feng,Chen, Sen-Qing Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.12

Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.

Pathological Lesions and Inducible Nitric Oxide Synthase Expressions in the Liver of Mice Experimentally Infected with Clonorchis sinensis

Qing-Li Yang,Ji-Qing Shen,Yan Xue,Xiao-Bing Cheng,Zhi-Hua Jiang,Yi-Chao Yang,Ying-Dan Chen,Xiao-Nong Zhou 대한기생충학열대의학회 2015 The Korean Journal of Parasitology Vol.53 No.6

The nitric oxide (NO) formation and intrinsic nitrosation may be involved in the possible mechanisms of liver fluke-associated carcinogenesis. We still do not know much about the responses of inducible NO synthase (iNOS) induced by Clonorchis sinensis infection. This study was conducted to explore the pathological lesions and iNOS expressions in the liver of mice with different infection intensity levels of C. sinensis. Extensive periductal inflammatory cell infiltration, bile duct hyperplasia, and fibrosis were commonly observed during the infection. The different pathological responses in liver tissues strongly correlated with the infection intensity of C. sinensis. Massive acute spotty necrosis occurred in the liver parenchyma after a severe infection. The iNOS activity in liver tissues increased, and iNOS-expressing cells with morphological differences were observed after a moderate or severe infection. The iNOS-expressing cells in liver tissues had multiple origins.

Perioperative Comprehensive Supportive Care Interventions for Chinese Patients with Esophageal Carcinoma: a Prospective Study

Zhang, Xiao-Dan,Zhao, Qing-Yu,Fang, Yi,Chen, Guan-Xuan,Zhang, Hui-Fang,Zhang, Wen-Xiao,Yang, Xiao-Ping Asian Pacific Journal of Cancer Prevention 2013 Asian Pacific journal of cancer prevention Vol.14 No.12

Objective: To assess the effects of perioperative comprehensive supportive care interventions on outcome of Chinese esophageal cancer patients in a prospective study. Methods: 60 patients with primary esophageal carcinoma were randomized into an intervention group (IG, n=31) and a control group (CG, n=29). The Chinese version of symptom checklist-90 (SCL-90) was adopted to assess their psychological status. The interventions, including health education, psychological support, stress management, coping strategies and behavior training, were carried out in 3 phases (preoperative, postoperative I and postoperative II), and psychological effects were thereafter evaluated accordingly before surgery, and 1 week, 4 weeks and 24 weeks post-surgery. Medical costs were estimated at discharge. Survival of patients was estimated each year post-surgery. General health status and satisfaction-with-hospital were surveyed by a follow-up questionnaire 4 years post-surgery. Results: All the subjects demonstrated higher scores in the preoperative phase than the normal range of Chinese population concerning 7 psychological domains including somatization, obsessive-compulsive, depression, anxiety, hostility, phobic anxiety and paranoid ideation. Although no significant difference was observed between the two groups at admission, the scores of IG, which tended to decrease at a faster rate, were generally lower than those of CG at weeks 1, 4 and 24 post-surgery. The length of hospital stay and medical costs of IG were significantly less than those of CG and satisfaction-with-hospital was better. However, there was no significant difference in 4-year survival or health status between two groups. Conclusions: Appropriate perioperative comprehensive supportive care interventions help to improve the psychological state of Chinese patients with esophageal carcinoma, to reduce health care costs and to promote satisfaction of patients and their families with hospital.

Tick-Borne Pathogens in Ixodid Ticks from Poyang Lake Region, Southeastern China

Wei Qing Zheng,Xue Nan Xuan,Ren Long Fu,Hui Ying Tao,Yang Qing Liu,Xiao Qing Liu,Dong Mei Li,Hong Mei Ma,Hai Ying Chen 대한기생충학열대의학회 2018 The Korean Journal of Parasitology Vol.56 No.6

Abbreviated MRI Protocols for Detecting Breast Cancer in Women with Dense Breasts

Shuang-Qing Chen,Min Huang,Yu-Ying Shen,Chen-Lu Liu,Chuan-Xiao Xu 대한영상의학회 2017 Korean Journal of Radiology Vol.18 No.3

Objective: To evaluate the validity of two abbreviated protocols (AP) of MRI in breast cancer screening of dense breast tissue. Materials and Methods: This was a retrospective study in 356 participants with dense breast tissue and negative mammography results. The study was approved by the Nanjing Medical University Ethics Committee. Patients were imaged with a full diagnostic protocol (FDP) of MRI. Two APs (AP-1 consisting of the first post-contrast subtracted [FAST] and maximum-intensity projection [MIP] images, and AP-2 consisting of AP-1 combined with diffusion-weighted imaging [DWI]) and FDP images were analyzed separately, and the sensitivities and specificities of breast cancer detection were calculated. Results: Of the 356 women, 67 lesions were detected in 67 women (18.8%) by standard MR protocol, and histological examination revealed 14 malignant lesions and 53 benign lesions. The average interpretation time of AP-1 and AP-2 were 37 seconds and 54 seconds, respectively, while the average interpretation time of the FDP was 3 minutes and 25 seconds. The sensitivities of the AP-1, AP-2, and FDP were 92.9, 100, and 100%, respectively, and the specificities of the three MR protocols were 86.5, 95.0, and 96.8%, respectively. There was no significant difference among the three MR protocols in the diagnosis of breast cancer (p > 0.05). However, the specificity of AP-1 was significantly lower than that of AP-2 (p = 0.031) and FDP (p = 0.035), while there was no difference between AP-2 and FDP (p > 0.05). Conclusion: The AP may be efficient in the breast cancer screening of dense breast tissue. FAST and MIP images combined with DWI of MRI are helpful to improve the specificity of breast cancer detection.

Experimental and Numerical Investigation on the Dynamic Responses of the Remaining Structure under Impact Loading with Column Being Removed

Chen Ou,Jun Liu,Lei Sun,Zhi-min Xiao,Yi Cheng,Ming-qing Liu,Fu-tian Zhao,Meng-yang Zhen,Yue Wang 대한토목학회 2021 KSCE JOURNAL OF CIVIL ENGINEERING Vol.25 No.6

The dynamic response and stability of building structures under accidental loads such as earthquake, explosion, and impact have been focused by experts. The significant influence will be induced once the damaged structure begins to collapse. In this study, a reinforced concrete frame structure model was designed and tested to study the dynamic response law of the structure under the condition of the failure of the middle column of the model structure, the remaining structure successively failed the load-bearing column and continued to be subjected to impact load and uniform load. The analytical method was used to calculate the ultimate uniform load subjecting to the structure under the failure of four load-bearing columns, because its value was less than the load in this test, the structure collapsed. The finite element calculation model was established, and compared the simulation results to the test results to verify its rationality. Then, the influence of the impact energy and the structural stores on the dynamic response of the structure were analyzed. The results showed that the peak value of the dynamic response of the damaged structure did not increase strictly with the increase of the number of failure columns, which may be related to the sequence of failure columns.

Adsorption of Nucleotides on ${\beta}$-Cyclodextrin Derivative Grafted Chitosan

Xiao Jian-Bo,Yu Hong-Zhu,Xu Ming,Chen Xiao-Qing The Polymer Society of Korea 2006 Macromolecular Research Vol.14 No.4

A novel ${\beta}$-cyclodextrin derivative (CCD-C) was synthesized with chitosan and carboxymethyl-${\beta}$-cyclodextrin. Its structure was characterized by elemental analysis, infrared spectra analysis, and X-ray diffraction analysis. The adsorption properties for guanosine 5'-monophosphate, cytidine 5'-monophosphate and uridine 5'-monophosphate were studied. Experimental results demonstrated that CCD-C had higher adsorption capability for guanosine 5'-monophosphate, and that the adsorption capacity for guanosine 5'-monophosphate was 74.20mg/g. The adsorption capacity was greatly influenced by pH, time and temperature. The introduction of chitosan enhanced the adsorption ability and adsorption selectivity of ${\beta}$-cyclodextrin for guanosine 5'-monophosphate. This novel derivative of chitosan is expected to have wide applications in the separation, concentration and analysis of nucleotides in biological samples.

Aberrant DNA Methylation of P16, MGMT, and hMLH1 Genes in Combination with MTHFR C677T Genetic Polymorphism and Folate Intake in Esophageal Squamous Cell Carcinoma

Chen, Jing,Huang, Zhi-Jie,Duan, Yu-Qin,Xiao, Xin-Rong,Jiang, Jian-Qing,Zhang, Ru Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.10

Aim: The present case-control study was conducted to explore the association of MTHFR gene polymorphism and relations of P16, MGMT and HMLH1 to MTHFR and folate intake. Methods: A total of 257 cases of esophageal squamous cell carcinoma confirmed by histopathological examination were collected. Genotyping of P16, MGMT and HMLH1 was accomplished by methylation-specific polymerase chain reaction (PCR) after sodium bisulfate modification of DNA and the MTHFR C677T genetic polymorphism was detected by PCR-restriction fragment-length polymorphism (PCR-RFLP). Results: The proportions of DNA hypermethylation in P16, MGMT and hMLH1 in cancer tissues were significantly higher than in paracancerous normal tissue. The proportion of hypermethylation in at least one gene was 88.5% in cancer tissue, and was also significantly higher than that in paracancerous normal tissue. Our finding showed individuals with homozygotes (TT) of MTHFR C677T had significant risk of DNA hypermethylation of MGMT in cancer tissues, with an OR (95% CI) of 3.15 (1.12-6.87). Similarly, patients with high intake of folate also showed a slight high risk of DNA methylation of MGMT, with OR (95% CI) of 2.03 (1.05-4.57). Conclusion: Our study found the P16, MGMT and hMLH1 demonstrate a high proportion of hypermethylation in esophageal squamous cell cancer cancer tissues, which might be used as biomarkers for cancer detection.

Over-expression of StLCYb increases b-carotene accumulation in potato tubers

Xiao-yan Song,Wen-jiao Zhu,Rui-min Tang,Jing-hui Cai,Min Chen,Qing Yang 한국식물생명공학회 2016 Plant biotechnology reports Vol.10 No.2

Lycopene b-cyclase (LCYb) is involved in the first step of the b-branch synthetic pathway of carotenoids from lycopene in plants. In this study, to explore the possibility of regulating b-carotene synthesis via the b-branchspecific pathway in potato, StLCYb gene was first isolated from potato cultivar Desiree, and its open reading frame was 1503 bp long without intron. The protein sequence of StLCYb showed high similarity with that of LCYbs in other species such as SlLCYb1, CaLCYb, NtLCYb and ApLCYb. StLCYb was expressed in all tissues and the highest level was observed in tubers followed in flowers, and the lowest level was in roots. HPLC detected an about 1.5–1.9 times increase in b-carotene content of transgenic potato tubers, in which the gene StLCYb was overexpressed, compared with the wild-type control. Besides, the expression levels of carotenoid-related genes StPSY, StPDS, StZDS, StCHYb and StZEP transcripts in the transgenic lines were significantly higher than in the wild-type control, which implied a positive regulation in promoting carotenoid synthesis. All these results suggest that b-carotene content in potato tubers could be regulated by modulating StLCYb expression.

Molecular cloning and characterization of two novel DREB genes encoding dehydration-responsive element binding proteins in halophyte Suaeda salsa

Xiao-Bo Sun,Hong-Xiang Ma,Xin-Ping Jia,Yu Chen,Xiao-Qing Ye 한국유전학회 2015 Genes & Genomics Vol.37 No.2

The dehydration-responsive element-binding(DREB) proteins play an important role in regulatingexpression of stress-inducible genes under abiotic stresses. In this study, two genes encoding putative DREB proteins,named SsDREBa and SsDREBb, were cloned from halophyteSuaeda salsa L. using RACE method. The deducedSsDREBa and SsDREBb proteins contain a typical AP2/ERF domain. Multiple sequence alignments and phylogeneticanalysis revealed that the two SsDREB genes of S. salsa were highly similar in AP2/ERF domains at thenucleotide and amino acid levels and belong to the A-6subgroup of the DREB transcription factor subfamily. Asubcellular localization assay showed that both SsDREBslocalized to the nucleus. Yeast one-hybrid experimentstestified that both proteins were able to specifically bind tothe DRE sequence and activate the expression of the downstreamHIS reporter gene in yeast. Quantitative real-timePCR analysis demonstrated that under normal conditions,the expression level of SsDREBa was the most high in theroots and no SsDREBa mRNAs were detected in the stems;SsDREBb expressed at relatively higher levels in the leavesthan in the roots and stems. The expression of SsDREa andSsDREBb genes in S. salsa roots and leaves was remarkablyinduced by high-salt and dehydration treatments, butnot by cold and ABA, and exhibited stronger induction inroots and leaves, respectively. These results indicate thatthe SsDREBa and SsDREBb are novel stress-responsivetranscription factors, which are involved in the drought andhigh-salt stress responses through ABA-independent pathwaysand could be used for production of stress-toleranttransgenic crops.